Canonical Allele Identifier: CA10643795
Gene: GSS HGNC NCBI

Linked Data

ClinVar Variation Id: 338293
ClinVar RCV Id: RCV000274182
dbSNP Id: rs369657861

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34929442G>C , CM000682.2:g.34929442G>C GRCh38
NC_000020.10:g.33517245G>C , CM000682.1:g.33517245G>C GRCh37
NC_000020.9:g.32980906G>C NCBI36
NG_008848.1:g.31357C>G
NG_011520.1:g.59501G>C
NG_008848.2:g.31586C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000642498.1:c.1260C>G ENSP00000493631.1:p.Val420=
ENST00000642538.1:c.*604C>G ENSP00000493927.1:n.*604C>G
ENST00000643188.1:c.1260C>G ENSP00000493903.1:p.Val420=
ENST00000643443.1:c.*967C>G ENSP00000495572.1:n.*967C>G
ENST00000643502.1:c.917C>G
ENST00000643908.1:n.1478C>G
ENST00000644538.1:n.1537C>G
ENST00000644694.1:n.397C>G
ENST00000644793.1:c.1260C>G ENSP00000495750.1:p.Val420=
ENST00000645328.1:c.490-491C>G
ENST00000645408.1:c.793C>G
ENST00000645723.1:n.2499C>G
ENST00000646405.1:c.*678C>G ENSP00000493744.1:n.*678C>G
ENST00000646512.1:n.1406C>G
ENST00000646735.1:c.927C>G ENSP00000493763.1:p.Val309=
ENST00000651619.1:c.1260C>G MANE Select ENSP00000498303.1:p.Val420=
ENST00000216951.6:c.1260C>G ENSP00000216951.2:p.Val420=
ENST00000451957.2:c.927C>G ENSP00000407517.2:p.Val309=
NM_000178.2:c.1260C>G NP_000169.1:p.Val420=
XM_005260406.3:c.1260C>G XP_005260463.1:p.Val420=
XM_011528796.1:c.1260C>G XP_011527098.1:p.Val420=
NM_000178.4:c.1260C>G MANE Select NP_000169.1:p.Val420=
NM_001322494.1:c.1260C>G NP_001309423.1:p.Val420=
NM_001322495.1:c.1260C>G NP_001309424.1:p.Val420=