Canonical Allele Identifier: CA2201615449

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362881C= , CM000678.2:g.1362881C=	GRCh38
NC_000016.9:g.1412882C= , CM000678.1:g.1412882C=	GRCh37
NC_000016.8:g.1352883C=	NCBI36
NG_016985.1:g.15983C=
NG_033129.1:g.56824G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.897C=
ENST00000529110.2:c.882C=	ENSP00000435349.2:p.His294=
ENST00000529957.6:n.856C=
ENST00000683366.1:c.*530C=	ENSP00000507283.1:n.*530C=
ENST00000683887.1:c.846C=	ENSP00000506886.1:p.His282=
ENST00000684100.1:n.792C=
ENST00000684126.1:n.932C=
ENST00000684688.1:n.1423C=
ENST00000204679.9:c.798C= MANE Select	ENSP00000204679.4:p.His266=
ENST00000204679.8:c.798C=	ENSP00000204679.4:p.His266=
ENST00000527076.1:n.2021C=
ENST00000527168.5:n.965C=
ENST00000529957.5:n.897C=
NM_032520.4:c.798C=	NP_115909.1:p.His266=
XM_017023782.1:c.846C=	XP_016879271.1:p.His282=
XM_017023783.1:c.438C=	XP_016879272.1:p.His146=
NM_032520.5:c.798C= MANE Select	NP_115909.1:p.His266=