Canonical Allele Identifier: CA2201614930

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362242C= , CM000678.2:g.1362242C=	GRCh38
NC_000016.9:g.1412243C= , CM000678.1:g.1412243C=	GRCh37
NC_000016.8:g.1352244C=	NCBI36
NG_016985.1:g.15344C=
NG_033129.1:g.57463G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.547C=
ENST00000529110.2:c.532C=	ENSP00000435349.2:p.His178=
ENST00000529957.6:n.506C=
ENST00000683366.1:c.*180C=	ENSP00000507283.1:n.*180C=
ENST00000683887.1:c.496C=	ENSP00000506886.1:p.His166=
ENST00000684100.1:n.442C=
ENST00000684126.1:n.506C=
ENST00000684688.1:n.1073C=
ENST00000204679.9:c.448C= MANE Select	ENSP00000204679.4:p.His150=
ENST00000204679.8:c.448C=	ENSP00000204679.4:p.His150=
ENST00000527076.1:n.1464C=
ENST00000527168.5:n.484C=
ENST00000529110.1:c.515C=
ENST00000529957.5:n.547C=
NM_032520.4:c.448C=	NP_115909.1:p.His150=
XM_017023782.1:c.496C=	XP_016879271.1:p.His166=
XM_017023783.1:c.88C=	XP_016879272.1:p.His30=
NM_032520.5:c.448C= MANE Select	NP_115909.1:p.His150=