Canonical Allele Identifier: CA9826085

Gene: GSS

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34942564C>T , CM000682.2:g.34942564C>T	GRCh38
NC_000020.10:g.33530367C>T , CM000682.1:g.33530367C>T	GRCh37
NC_000020.9:g.32994028C>T	NCBI36
NG_008848.1:g.18235G>A
NG_008848.2:g.18464G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000178.4:c.415G>A MANE Select	NP_000169.1:p.Ala139Thr
ENST00000651619.1:c.415G>A MANE Select	ENSP00000498303.1:p.Ala139Thr
NM_000178.2:c.415G>A	NP_000169.1:p.Ala139Thr
NM_001322494.1:c.415G>A	NP_001309423.1:p.Ala139Thr
NM_001322495.1:c.415G>A	NP_001309424.1:p.Ala139Thr
ENST00000216951.6:c.415G>A	ENSP00000216951.2:p.Ala139Thr
ENST00000451957.2:c.275+3389G>A	ENSP00000407517.2:n.275+3389G>A
ENST00000642493.1:c.*122G>A	ENSP00000493524.1:n.*122G>A
ENST00000642498.1:c.415G>A	ENSP00000493631.1:p.Ala139Thr
ENST00000642538.1:c.351+367G>A	ENSP00000493927.1:n.351+367G>A
ENST00000643188.1:c.415G>A	ENSP00000493903.1:p.Ala139Thr
ENST00000643443.1:c.*122G>A	ENSP00000495572.1:n.*122G>A
ENST00000643502.1:c.72G>A
ENST00000643908.1:n.778G>A
ENST00000644538.1:n.692G>A
ENST00000644793.1:c.415G>A	ENSP00000495750.1:p.Ala139Thr
ENST00000645408.1:c.15G>A
ENST00000645723.1:n.1654G>A
ENST00000646405.1:c.351+367G>A	ENSP00000493744.1:n.351+367G>A
ENST00000646497.1:n.362G>A
ENST00000646502.1:n.897G>A
ENST00000646512.1:n.628G>A
ENST00000646735.1:c.275+3389G>A	ENSP00000493763.1:n.275+3389G>A
ENST00000646766.1:c.*45G>A	ENSP00000494333.1:n.*45G>A
XM_005260406.3:c.415G>A	XP_005260463.1:p.Ala139Thr
XM_011528796.1:c.415G>A	XP_011527098.1:p.Ala139Thr