Canonical Allele Identifier: CA2201615264

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362615A= , CM000678.2:g.1362615A=	GRCh38
NC_000016.9:g.1412616A= , CM000678.1:g.1412616A=	GRCh37
NC_000016.8:g.1352617A=	NCBI36
NG_016985.1:g.15717A=
NG_033129.1:g.57090T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.713A=
ENST00000529110.2:c.698A=	ENSP00000435349.2:p.His233=
ENST00000529957.6:n.672A=
ENST00000683366.1:c.*346A=	ENSP00000507283.1:n.*346A=
ENST00000683887.1:c.662A=	ENSP00000506886.1:p.His221=
ENST00000684100.1:n.608A=
ENST00000684126.1:n.748A=
ENST00000684688.1:n.1239A=
ENST00000204679.9:c.614A= MANE Select	ENSP00000204679.4:p.His205=
ENST00000204679.8:c.614A=	ENSP00000204679.4:p.His205=
ENST00000527076.1:n.1837A=
ENST00000527168.5:n.781A=
ENST00000529957.5:n.713A=
NM_032520.4:c.614A=	NP_115909.1:p.His205=
XM_017023782.1:c.662A=	XP_016879271.1:p.His221=
XM_017023783.1:c.254A=	XP_016879272.1:p.His85=
NM_032520.5:c.614A= MANE Select	NP_115909.1:p.His205=