Canonical Allele Identifier: CA408701346
Gene: GSS HGNC NCBI

Linked Data

dbSNP Id: rs2081406605

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34932102G>C , CM000682.2:g.34932102G>C GRCh38
NC_000020.10:g.33519905G>C , CM000682.1:g.33519905G>C GRCh37
NC_000020.9:g.32983566G>C NCBI36
NG_008848.1:g.28697C>G
NG_008848.2:g.28926C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000642493.1:c.*506C>G ENSP00000493524.1:n.*506C>G
ENST00000642498.1:c.866C>G ENSP00000493631.1:p.Ser289Ter
ENST00000642538.1:c.*210C>G ENSP00000493927.1:n.*210C>G
ENST00000643188.1:c.866C>G ENSP00000493903.1:p.Ser289Ter
ENST00000643443.1:c.*573C>G ENSP00000495572.1:n.*573C>G
ENST00000643502.1:c.523C>G
ENST00000643908.1:n.1084C>G
ENST00000644538.1:n.1143C>G
ENST00000644793.1:c.866C>G ENSP00000495750.1:p.Ser289Ter
ENST00000645328.1:c.244C>G
ENST00000645408.1:c.399C>G
ENST00000645723.1:n.2105C>G
ENST00000646405.1:c.*284C>G ENSP00000493744.1:n.*284C>G
ENST00000646497.1:n.811C>G
ENST00000646512.1:n.1012C>G
ENST00000646735.1:c.533C>G ENSP00000493763.1:p.Ser178Ter
ENST00000651619.1:c.866C>G MANE Select ENSP00000498303.1:p.Ser289Ter
ENST00000216951.6:c.866C>G ENSP00000216951.2:p.Ser289Ter
ENST00000451957.2:c.533C>G ENSP00000407517.2:p.Ser178Ter
NM_000178.2:c.866C>G NP_000169.1:p.Ser289Ter
XM_005260406.3:c.866C>G XP_005260463.1:p.Ser289Ter
XM_011528796.1:c.866C>G XP_011527098.1:p.Ser289Ter
NM_000178.4:c.866C>G MANE Select NP_000169.1:p.Ser289Ter
NM_001322494.1:c.866C>G NP_001309423.1:p.Ser289Ter
NM_001322495.1:c.866C>G NP_001309424.1:p.Ser289Ter