Canonical Allele Identifier: CA408702823

Gene: GSS

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34936976T>G , CM000682.2:g.34936976T>G	GRCh38
NC_000020.10:g.33524779T>G , CM000682.1:g.33524779T>G	GRCh37
NC_000020.9:g.32988440T>G	NCBI36
NG_008848.1:g.23823A>C
NG_008848.2:g.24052A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*363A>C	ENSP00000493524.1:n.*363A>C
ENST00000642498.1:c.656A>C	ENSP00000493631.1:p.Asp219Ala
ENST00000642538.1:c.399A>C	ENSP00000493927.1:p.Ter133Cys
ENST00000643188.1:c.656A>C	ENSP00000493903.1:p.Asp219Ala
ENST00000643443.1:c.*363A>C	ENSP00000495572.1:n.*363A>C
ENST00000643502.1:c.313A>C
ENST00000643908.1:n.1019A>C
ENST00000644538.1:n.933A>C
ENST00000644793.1:c.656A>C	ENSP00000495750.1:p.Asp219Ala
ENST00000645328.1:c.34A>C
ENST00000645408.1:c.256A>C
ENST00000645723.1:n.1895A>C
ENST00000646405.1:c.*141A>C	ENSP00000493744.1:n.*141A>C
ENST00000646497.1:n.603A>C
ENST00000646502.1:n.1138A>C
ENST00000646512.1:n.869A>C
ENST00000646735.1:c.323A>C	ENSP00000493763.1:p.Asp108Ala
ENST00000646766.1:c.*286A>C	ENSP00000494333.1:n.*286A>C
ENST00000651619.1:c.656A>C MANE Select	ENSP00000498303.1:p.Asp219Ala
ENST00000216951.6:c.656A>C	ENSP00000216951.2:p.Asp219Ala
ENST00000451957.2:c.323A>C	ENSP00000407517.2:p.Asp108Ala
NM_000178.2:c.656A>C	NP_000169.1:p.Asp219Ala
XM_005260406.3:c.656A>C	XP_005260463.1:p.Asp219Ala
XM_011528796.1:c.656A>C	XP_011527098.1:p.Asp219Ala
NM_000178.4:c.656A>C MANE Select	NP_000169.1:p.Asp219Ala
NM_001322494.1:c.656A>C	NP_001309423.1:p.Asp219Ala
NM_001322495.1:c.656A>C	NP_001309424.1:p.Asp219Ala