Canonical Allele Identifier: CA2201615426

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362841C= , CM000678.2:g.1362841C=	GRCh38
NC_000016.9:g.1412842C= , CM000678.1:g.1412842C=	GRCh37
NC_000016.8:g.1352843C=	NCBI36
NG_016985.1:g.15943C=
NG_033129.1:g.56864G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.857C=
ENST00000529110.2:c.842C=	ENSP00000435349.2:p.Ser281=
ENST00000529957.6:n.816C=
ENST00000683366.1:c.*490C=	ENSP00000507283.1:n.*490C=
ENST00000683887.1:c.806C=	ENSP00000506886.1:p.Ser269=
ENST00000684100.1:n.752C=
ENST00000684126.1:n.892C=
ENST00000684688.1:n.1383C=
ENST00000204679.9:c.758C= MANE Select	ENSP00000204679.4:p.Ser253=
ENST00000204679.8:c.758C=	ENSP00000204679.4:p.Ser253=
ENST00000527076.1:n.1981C=
ENST00000527168.5:n.925C=
ENST00000529957.5:n.857C=
NM_032520.4:c.758C=	NP_115909.1:p.Ser253=
XM_017023782.1:c.806C=	XP_016879271.1:p.Ser269=
XM_017023783.1:c.398C=	XP_016879272.1:p.Ser133=
NM_032520.5:c.758C= MANE Select	NP_115909.1:p.Ser253=