Canonical Allele Identifier: CA2201615005

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362271C= , CM000678.2:g.1362271C=	GRCh38
NC_000016.9:g.1412272C= , CM000678.1:g.1412272C=	GRCh37
NC_000016.8:g.1352273C=	NCBI36
NG_016985.1:g.15373C=
NG_033129.1:g.57434G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.576C=
ENST00000529110.2:c.561C=	ENSP00000435349.2:p.Tyr187=
ENST00000529957.6:n.535C=
ENST00000683366.1:c.*209C=	ENSP00000507283.1:n.*209C=
ENST00000683887.1:c.525C=	ENSP00000506886.1:p.Tyr175=
ENST00000684100.1:n.471C=
ENST00000684126.1:n.535C=
ENST00000684688.1:n.1102C=
ENST00000204679.9:c.477C= MANE Select	ENSP00000204679.4:p.Tyr159=
ENST00000204679.8:c.477C=	ENSP00000204679.4:p.Tyr159=
ENST00000527076.1:n.1493C=
ENST00000527168.5:n.513C=
ENST00000529110.1:c.544C=
ENST00000529957.5:n.576C=
NM_032520.4:c.477C=	NP_115909.1:p.Tyr159=
XM_017023782.1:c.525C=	XP_016879271.1:p.Tyr175=
XM_017023783.1:c.117C=	XP_016879272.1:p.Tyr39=
NM_032520.5:c.477C= MANE Select	NP_115909.1:p.Tyr159=