Canonical Allele Identifier: CA9825935

Gene: GSS

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932094C>T , CM000682.2:g.34932094C>T	GRCh38
NC_000020.10:g.33519897C>T , CM000682.1:g.33519897C>T	GRCh37
NC_000020.9:g.32983558C>T	NCBI36
NG_008848.1:g.28705G>A
NG_008848.2:g.28934G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000178.4:c.874G>A MANE Select	NP_000169.1:p.Ala292Thr
ENST00000651619.1:c.874G>A MANE Select	ENSP00000498303.1:p.Ala292Thr
NM_000178.2:c.874G>A	NP_000169.1:p.Ala292Thr
NM_001322494.1:c.874G>A	NP_001309423.1:p.Ala292Thr
NM_001322495.1:c.874G>A	NP_001309424.1:p.Ala292Thr
ENST00000216951.6:c.874G>A	ENSP00000216951.2:p.Ala292Thr
ENST00000451957.2:c.541G>A	ENSP00000407517.2:p.Ala181Thr
ENST00000642493.1:c.*514G>A	ENSP00000493524.1:n.*514G>A
ENST00000642498.1:c.874G>A	ENSP00000493631.1:p.Ala292Thr
ENST00000642538.1:c.*218G>A	ENSP00000493927.1:n.*218G>A
ENST00000643188.1:c.874G>A	ENSP00000493903.1:p.Ala292Thr
ENST00000643443.1:c.*581G>A	ENSP00000495572.1:n.*581G>A
ENST00000643502.1:c.531G>A
ENST00000643908.1:n.1092G>A
ENST00000644538.1:n.1151G>A
ENST00000644793.1:c.874G>A	ENSP00000495750.1:p.Ala292Thr
ENST00000645328.1:c.252G>A
ENST00000645408.1:c.407G>A
ENST00000645723.1:n.2113G>A
ENST00000646405.1:c.*292G>A	ENSP00000493744.1:n.*292G>A
ENST00000646497.1:n.819G>A
ENST00000646512.1:n.1020G>A
ENST00000646735.1:c.541G>A	ENSP00000493763.1:p.Ala181Thr
XM_005260406.3:c.874G>A	XP_005260463.1:p.Ala292Thr
XM_011528796.1:c.874G>A	XP_011527098.1:p.Ala292Thr