Allele/Variant

rs398123223

Species
Homo sapiens
Symbol
rs398123223
Category
Variant
Variant type
SNP
Overlaps
GLA
Location
X:101398470
Nucleotide Change
A>G
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)X:101398470A>G
HGVS.c name
  • ENSEMBL:ENST00000218516.4:c.899T>C
  • ENSEMBL:ENST00000409170.3:c.300+3013A>G
HGVS.p name
  • ENSP00000218516:p.Leu300Pro
  • ENSP00000498186:p.Leu341Pro
Synonyms
Not Available
Notes
Not Available
Cross references
Not Available
References
Not Available

Genome location
Assembly version
Not Available
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Variant Molecular Consequences

Sequence feature
Sequence feature type
Associated gene
Location
Molecular consequence
Codon and amino acid change
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