Canonical Allele Identifier: CA2361423056

Gene: GSS

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932121G= , CM000682.2:g.34932121G=	GRCh38
NC_000020.10:g.33519924G= , CM000682.1:g.33519924G=	GRCh37
NC_000020.9:g.32983585G=	NCBI36
NG_008848.1:g.28678C=
NG_008848.2:g.28907C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000178.4:c.847C= MANE Select	NP_000169.1:p.Arg283=
ENST00000651619.1:c.847C= MANE Select	ENSP00000498303.1:p.Arg283=
NM_000178.2:c.847C=	NP_000169.1:p.Arg283=
NM_001322494.1:c.847C=	NP_001309423.1:p.Arg283=
NM_001322495.1:c.847C=	NP_001309424.1:p.Arg283=
ENST00000216951.6:c.847C=	ENSP00000216951.2:p.Arg283=
ENST00000451957.2:c.514C=	ENSP00000407517.2:p.Arg172=
ENST00000642493.1:c.*487C=	ENSP00000493524.1:n.*487C=
ENST00000642498.1:c.847C=	ENSP00000493631.1:p.Arg283=
ENST00000642538.1:c.*191C=	ENSP00000493927.1:n.*191C=
ENST00000643188.1:c.847C=	ENSP00000493903.1:p.Arg283=
ENST00000643443.1:c.*554C=	ENSP00000495572.1:n.*554C=
ENST00000643502.1:c.504C=
ENST00000643908.1:n.1065C=
ENST00000644538.1:n.1124C=
ENST00000644793.1:c.847C=	ENSP00000495750.1:p.Arg283=
ENST00000645328.1:c.225C=
ENST00000645408.1:c.380C=
ENST00000645723.1:n.2086C=
ENST00000646405.1:c.*265C=	ENSP00000493744.1:n.*265C=
ENST00000646497.1:n.792C=
ENST00000646512.1:n.993C=
ENST00000646735.1:c.514C=	ENSP00000493763.1:p.Arg172=
XM_005260406.3:c.847C=	XP_005260463.1:p.Arg283=
XM_011528796.1:c.847C=	XP_011527098.1:p.Arg283=