Allele/Variant

rs1928174707

Species
Homo sapiens
Symbol
rs1928174707
Category
Variant
Variant type
SNP
Overlaps
GLA
Location
X:101398558
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)X:101398558C>T
HGVS.c name
  • ENSEMBL:ENST00000218516.4:c.811G>A
  • ENSEMBL:ENST00000409170.3:c.300+3101C>T
HGVS.p name
  • ENSP00000218516:p.Gly271Ser
  • ENSP00000498186:p.Gly312Ser
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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