Allele/Variant

rs192877632

Species
Homo sapiens
Symbol
rs192877632
Category
Variant
Variant type
SNP
Overlaps
NUP210L
Location
1:154089435
Nucleotide Change
G>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000001.11:g.154089435G>A
HGVS.c name
  • ENSEMBL:ENST00000271854.3:c.2347C>T
  • ENSEMBL:ENST00000368559.8:c.2347C>T
HGVS.p name
  • ENSP00000271854:p.His783Tyr
  • ENSP00000357547:p.His783Tyr
Synonyms
Not Available
Notes
Not Available
Cross references
Not Available
References
Not Available

Genome location
Assembly version
Not Available
Viewer Help
154.00M154.02M154.04M154.06M154.08M154.10M154.12M154.14M

Variant Molecular Consequences

Sequence feature
Sequence feature type
Associated gene
Location
Molecular consequence
Codon and amino acid change
ENSEMBL:ENST00000271854.3
protein_codingNUP210LExon 16/38
  • missense variant
2347CacN/A
[783]H/YN/A
=>
Tac
H/Y
ENSEMBL:ENST00000368559.8
protein_codingNUP210LExon 16/40
  • missense variant
2347CacN/A
[783]H/YN/A
=>
Tac
H/Y
RefSeq:NM_207308.3
protein_codingNUP210LExon 16/40
  • missense variant
2347CacN/A
[783]H/YN/A
=>
Tac
H/Y
RefSeq:XM_011510124.2
protein_codingNUP210LExon 16/38
  • missense variant
2347CacN/A
[783]H/YN/A
=>
Tac
H/Y
RefSeq:XM_017002789.3
protein_codingNUP210LExon 16/36
  • missense variant
2347CacN/A
[783]H/YN/A
=>
Tac
H/Y
Showing 1 - 5 of 5 rows
per page