Canonical Allele Identifier: CA2201615002

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362266G= , CM000678.2:g.1362266G=	GRCh38
NC_000016.9:g.1412267G= , CM000678.1:g.1412267G=	GRCh37
NC_000016.8:g.1352268G=	NCBI36
NG_016985.1:g.15368G=
NG_033129.1:g.57439C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.571G=
ENST00000529110.2:c.556G=	ENSP00000435349.2:p.Val186=
ENST00000529957.6:n.530G=
ENST00000683366.1:c.*204G=	ENSP00000507283.1:n.*204G=
ENST00000683887.1:c.520G=	ENSP00000506886.1:p.Val174=
ENST00000684100.1:n.466G=
ENST00000684126.1:n.530G=
ENST00000684688.1:n.1097G=
ENST00000204679.9:c.472G= MANE Select	ENSP00000204679.4:p.Val158=
ENST00000204679.8:c.472G=	ENSP00000204679.4:p.Val158=
ENST00000527076.1:n.1488G=
ENST00000527168.5:n.508G=
ENST00000529110.1:c.539G=
ENST00000529957.5:n.571G=
NM_032520.4:c.472G=	NP_115909.1:p.Val158=
XM_017023782.1:c.520G=	XP_016879271.1:p.Val174=
XM_017023783.1:c.112G=	XP_016879272.1:p.Val38=
NM_032520.5:c.472G= MANE Select	NP_115909.1:p.Val158=