Canonical Allele Identifier: CA2201615037

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362310C= , CM000678.2:g.1362310C=	GRCh38
NC_000016.9:g.1412311C= , CM000678.1:g.1412311C=	GRCh37
NC_000016.8:g.1352312C=	NCBI36
NG_016985.1:g.15412C=
NG_033129.1:g.57395G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.615C=
ENST00000529110.2:c.600C=	ENSP00000435349.2:p.His200=
ENST00000529957.6:n.574C=
ENST00000683366.1:c.*248C=	ENSP00000507283.1:n.*248C=
ENST00000683887.1:c.564C=	ENSP00000506886.1:p.His188=
ENST00000684100.1:n.510C=
ENST00000684126.1:n.574C=
ENST00000684688.1:n.1141C=
ENST00000204679.9:c.516C= MANE Select	ENSP00000204679.4:p.His172=
ENST00000204679.8:c.516C=	ENSP00000204679.4:p.His172=
ENST00000527076.1:n.1532C=
ENST00000527168.5:n.552C=
ENST00000529957.5:n.615C=
NM_032520.4:c.516C=	NP_115909.1:p.His172=
XM_017023782.1:c.564C=	XP_016879271.1:p.His188=
XM_017023783.1:c.156C=	XP_016879272.1:p.His52=
NM_032520.5:c.516C= MANE Select	NP_115909.1:p.His172=