Canonical Allele Identifier: CA119694
Gene: GSS HGNC NCBI

Linked Data

ClinVar Variation Id: 8529
ClinVar RCV Id: RCV003488332
dbSNP Id: rs28936396
ExAC: 20:33530409 G / A
gnomAD v2: 20-33530409-G-A
gnomAD v3: 20-34942606-G-A
gnomAD v4: 20-34942606-G-A
MyVariant Identifiers: chr20:g.33530409G>A (hg19) chr20:g.34942606G>A (hg38)
PubMed: PMID:8896573
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34942606G>A , CM000682.2:g.34942606G>A GRCh38
NC_000020.10:g.33530409G>A , CM000682.1:g.33530409G>A GRCh37
NC_000020.9:g.32994070G>A NCBI36
NG_008848.1:g.18193C>T
NG_008848.2:g.18422C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000642493.1:c.*80C>T ENSP00000493524.1:n.*80C>T
ENST00000642498.1:c.373C>T ENSP00000493631.1:p.Arg125Cys
ENST00000642538.1:c.351+325C>T ENSP00000493927.1:n.351+325C>T
ENST00000643188.1:c.373C>T ENSP00000493903.1:p.Arg125Cys
ENST00000643271.1:c.373C>T ENSP00000496125.1:p.Arg125Cys
ENST00000643443.1:c.*80C>T ENSP00000495572.1:n.*80C>T
ENST00000643502.1:c.51-21C>T
ENST00000643908.1:n.736C>T
ENST00000644538.1:n.650C>T
ENST00000644793.1:c.373C>T ENSP00000495750.1:p.Arg125Cys
ENST00000645723.1:n.1612C>T
ENST00000646405.1:c.351+325C>T ENSP00000493744.1:n.351+325C>T
ENST00000646497.1:n.320C>T
ENST00000646502.1:n.855C>T
ENST00000646512.1:n.586C>T
ENST00000646735.1:c.275+3347C>T ENSP00000493763.1:n.275+3347C>T
ENST00000646766.1:c.*3C>T ENSP00000494333.1:n.*3C>T
ENST00000651619.1:c.373C>T MANE Select ENSP00000498303.1:p.Arg125Cys
ENST00000216951.6:c.373C>T ENSP00000216951.2:p.Arg125Cys
ENST00000451957.2:c.275+3347C>T ENSP00000407517.2:n.275+3347C>T
NM_000178.2:c.373C>T NP_000169.1:p.Arg125Cys
XM_005260406.3:c.373C>T XP_005260463.1:p.Arg125Cys
XM_011528796.1:c.373C>T XP_011527098.1:p.Arg125Cys
NM_000178.4:c.373C>T MANE Select NP_000169.1:p.Arg125Cys
NM_001322494.1:c.373C>T NP_001309423.1:p.Arg125Cys
NM_001322495.1:c.373C>T NP_001309424.1:p.Arg125Cys
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