Canonical Allele Identifier: CA2201614102

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361896C= , CM000678.2:g.1361896C=	GRCh38
NC_000016.9:g.1411897C= , CM000678.1:g.1411897C=	GRCh37
NC_000016.8:g.1351898C=	NCBI36
NG_016985.1:g.14998C=
NG_033129.1:g.57809G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.357C=
ENST00000529110.2:c.342C=	ENSP00000435349.2:p.Phe114=
ENST00000529957.6:n.316C=
ENST00000683366.1:c.203C=	ENSP00000507283.1:p.Ser68=
ENST00000683887.1:c.306C=	ENSP00000506886.1:p.Phe102=
ENST00000684100.1:n.252C=
ENST00000684126.1:n.316C=
ENST00000684688.1:n.883C=
ENST00000204679.9:c.258C= MANE Select	ENSP00000204679.4:p.Phe86=
ENST00000204679.8:c.258C=	ENSP00000204679.4:p.Phe86=
ENST00000526820.5:c.*160C=	ENSP00000434413.1:n.*160C=
ENST00000527076.1:n.1274C=
ENST00000527168.5:n.294C=
ENST00000529110.1:c.325C=
ENST00000529957.5:n.357C=
NM_032520.4:c.258C=	NP_115909.1:p.Phe86=
XM_017023782.1:c.306C=	XP_016879271.1:p.Phe102=
XM_017023783.1:c.-103C=	XP_016879272.1:n.-103C=
NM_032520.5:c.258C= MANE Select	NP_115909.1:p.Phe86=