Canonical Allele Identifier: CA2361423034

Gene: GSS

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932037G= , CM000682.2:g.34932037G=	GRCh38
NC_000020.10:g.33519840G= , CM000682.1:g.33519840G=	GRCh37
NC_000020.9:g.32983501G=	NCBI36
NG_008848.1:g.28762C=
NG_008848.2:g.28991C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*571C=	ENSP00000493524.1:n.*571C=
ENST00000642498.1:c.931C=	ENSP00000493631.1:p.Leu311=
ENST00000642538.1:c.*275C=	ENSP00000493927.1:n.*275C=
ENST00000643188.1:c.931C=	ENSP00000493903.1:p.Leu311=
ENST00000643443.1:c.*638C=	ENSP00000495572.1:n.*638C=
ENST00000643502.1:c.588C=
ENST00000643908.1:n.1149C=
ENST00000644538.1:n.1208C=
ENST00000644793.1:c.931C=	ENSP00000495750.1:p.Leu311=
ENST00000645328.1:c.309C=
ENST00000645408.1:c.464C=
ENST00000645723.1:n.2170C=
ENST00000646405.1:c.*349C=	ENSP00000493744.1:n.*349C=
ENST00000646497.1:n.876C=
ENST00000646512.1:n.1077C=
ENST00000646735.1:c.598C=	ENSP00000493763.1:p.Leu200=
ENST00000651619.1:c.931C= MANE Select	ENSP00000498303.1:p.Leu311=
ENST00000216951.6:c.931C=	ENSP00000216951.2:p.Leu311=
ENST00000451957.2:c.598C=	ENSP00000407517.2:p.Leu200=
NM_000178.2:c.931C=	NP_000169.1:p.Leu311=
XM_005260406.3:c.931C=	XP_005260463.1:p.Leu311=
XM_011528796.1:c.931C=	XP_011527098.1:p.Leu311=
NM_000178.4:c.931C= MANE Select	NP_000169.1:p.Leu311=
NM_001322494.1:c.931C=	NP_001309423.1:p.Leu311=
NM_001322495.1:c.931C=	NP_001309424.1:p.Leu311=