Canonical Allele Identifier: CA119692
Gene: GSS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8527
ClinVar RCV Id: RCV000009053
dbSNP Id: rs121909308

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34935611G>A , CM000682.2:g.34935611G>A GRCh38
NC_000020.9:g.32987075G>A NCBI36
NC_000020.10:g.33523414G>A , CM000682.1:g.33523414G>A GRCh37
NG_008848.1:g.25188C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000216951.6:c.799C>T ENSP00000216951.2:p.Arg267Trp
ENST00000451957.2:n.466C>T ENSP00000407517.2:p.Arg156Trp
NM_000178.2:c.799C>T NP_000169.1:p.Arg267Trp
XM_005260406.3:c.799C>T XP_005260463.1:p.Arg267Trp
XM_011528796.1:c.799C>T XP_011527098.1:p.Arg267Trp