Canonical Allele Identifier: CA1017155343

Gene: GSS

Linked Data

• dbSNP Id: rs2081402941
• gnomAD v3: 20-34931725-T-G
• gnomAD v4: 20-34931725-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34931725T>G , CM000682.2:g.34931725T>G	GRCh38
NC_000020.10:g.33519528T>G , CM000682.1:g.33519528T>G	GRCh37
NC_000020.9:g.32983189T>G	NCBI36
NG_008848.1:g.29074A>C
NG_008848.2:g.29303A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642498.1:c.1029+214A>C	ENSP00000493631.1:n.1029+214A>C
ENST00000642538.1:c.*373+214A>C	ENSP00000493927.1:n.*373+214A>C
ENST00000643188.1:c.1029+214A>C	ENSP00000493903.1:n.1029+214A>C
ENST00000643443.1:c.*736+214A>C	ENSP00000495572.1:n.*736+214A>C
ENST00000643502.1:c.686+214A>C
ENST00000643908.1:n.1247+214A>C
ENST00000644538.1:n.1306+214A>C
ENST00000644793.1:c.1029+214A>C	ENSP00000495750.1:n.1029+214A>C
ENST00000645328.1:c.407+214A>C
ENST00000645408.1:c.562+214A>C
ENST00000645723.1:n.2268+214A>C
ENST00000646405.1:c.*447+214A>C	ENSP00000493744.1:n.*447+214A>C
ENST00000646512.1:n.1175+214A>C
ENST00000646735.1:c.696+214A>C	ENSP00000493763.1:n.696+214A>C
ENST00000651619.1:c.1029+214A>C MANE Select	ENSP00000498303.1:n.1029+214A>C
ENST00000216951.6:c.1029+214A>C	ENSP00000216951.2:n.1029+214A>C
ENST00000451957.2:c.696+214A>C	ENSP00000407517.2:n.696+214A>C
NM_000178.2:c.1029+214A>C	NP_000169.1:n.1029+214A>C
XM_005260406.3:c.1029+214A>C	XP_005260463.1:n.1029+214A>C
XM_011528796.1:c.1029+214A>C	XP_011527098.1:n.1029+214A>C
NM_000178.4:c.1029+214A>C MANE Select	NP_000169.1:n.1029+214A>C
NM_001322494.1:c.1029+214A>C	NP_001309423.1:n.1029+214A>C
NM_001322495.1:c.1029+214A>C	NP_001309424.1:n.1029+214A>C