Canonical Allele Identifier: CA2201615045

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362320G= , CM000678.2:g.1362320G=	GRCh38
NC_000016.9:g.1412321G= , CM000678.1:g.1412321G=	GRCh37
NC_000016.8:g.1352322G=	NCBI36
NG_016985.1:g.15422G=
NG_033129.1:g.57385C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.625G=
ENST00000529110.2:c.610G=	ENSP00000435349.2:p.Val204=
ENST00000529957.6:n.584G=
ENST00000683366.1:c.*258G=	ENSP00000507283.1:n.*258G=
ENST00000683887.1:c.574G=	ENSP00000506886.1:p.Val192=
ENST00000684100.1:n.520G=
ENST00000684126.1:n.584G=
ENST00000684688.1:n.1151G=
ENST00000204679.9:c.526G= MANE Select	ENSP00000204679.4:p.Val176=
ENST00000204679.8:c.526G=	ENSP00000204679.4:p.Val176=
ENST00000527076.1:n.1542G=
ENST00000527168.5:n.562G=
ENST00000529957.5:n.625G=
NM_032520.4:c.526G=	NP_115909.1:p.Val176=
XM_017023782.1:c.574G=	XP_016879271.1:p.Val192=
XM_017023783.1:c.166G=	XP_016879272.1:p.Val56=
NM_032520.5:c.526G= MANE Select	NP_115909.1:p.Val176=