Canonical Allele Identifier: CA2201614185

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361924T= , CM000678.2:g.1361924T=	GRCh38
NC_000016.9:g.1411925T= , CM000678.1:g.1411925T=	GRCh37
NC_000016.8:g.1351926T=	NCBI36
NG_016985.1:g.15026T=
NG_033129.1:g.57781A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.385T=
ENST00000529110.2:c.370T=	ENSP00000435349.2:p.Phe124=
ENST00000529957.6:n.344T=
ENST00000683366.1:c.*18T=	ENSP00000507283.1:n.*18T=
ENST00000683887.1:c.334T=	ENSP00000506886.1:p.Phe112=
ENST00000684100.1:n.280T=
ENST00000684126.1:n.344T=
ENST00000684688.1:n.911T=
ENST00000204679.9:c.286T= MANE Select	ENSP00000204679.4:p.Phe96=
ENST00000204679.8:c.286T=	ENSP00000204679.4:p.Phe96=
ENST00000526820.5:c.*188T=	ENSP00000434413.1:n.*188T=
ENST00000527076.1:n.1302T=
ENST00000527168.5:n.322T=
ENST00000529110.1:c.353T=
ENST00000529957.5:n.385T=
NM_032520.4:c.286T=	NP_115909.1:p.Phe96=
XM_017023782.1:c.334T=	XP_016879271.1:p.Phe112=
XM_017023783.1:c.-75T=	XP_016879272.1:n.-75T=
NM_032520.5:c.286T= MANE Select	NP_115909.1:p.Phe96=