Canonical Allele Identifier: CA2201615416

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362830T= , CM000678.2:g.1362830T=	GRCh38
NC_000016.9:g.1412831T= , CM000678.1:g.1412831T=	GRCh37
NC_000016.8:g.1352832T=	NCBI36
NG_016985.1:g.15932T=
NG_033129.1:g.56875A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.846T=
ENST00000529110.2:c.831T=	ENSP00000435349.2:p.His277=
ENST00000529957.6:n.805T=
ENST00000683366.1:c.*479T=	ENSP00000507283.1:n.*479T=
ENST00000683887.1:c.795T=	ENSP00000506886.1:p.His265=
ENST00000684100.1:n.741T=
ENST00000684126.1:n.881T=
ENST00000684688.1:n.1372T=
ENST00000204679.9:c.747T= MANE Select	ENSP00000204679.4:p.His249=
ENST00000204679.8:c.747T=	ENSP00000204679.4:p.His249=
ENST00000527076.1:n.1970T=
ENST00000527168.5:n.914T=
ENST00000529957.5:n.846T=
NM_032520.4:c.747T=	NP_115909.1:p.His249=
XM_017023782.1:c.795T=	XP_016879271.1:p.His265=
XM_017023783.1:c.387T=	XP_016879272.1:p.His129=
NM_032520.5:c.747T= MANE Select	NP_115909.1:p.His249=