Canonical Allele Identifier: CA2201614259

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361953C= , CM000678.2:g.1361953C=	GRCh38
NC_000016.9:g.1411954C= , CM000678.1:g.1411954C=	GRCh37
NC_000016.8:g.1351955C=	NCBI36
NG_016985.1:g.15055C=
NG_033129.1:g.57752G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.414C=
ENST00000529110.2:c.399C=	ENSP00000435349.2:p.Leu133=
ENST00000529957.6:n.373C=
ENST00000683366.1:c.*47C=	ENSP00000507283.1:n.*47C=
ENST00000683887.1:c.363C=	ENSP00000506886.1:p.Leu121=
ENST00000684100.1:n.309C=
ENST00000684126.1:n.373C=
ENST00000684688.1:n.940C=
ENST00000204679.9:c.315C= MANE Select	ENSP00000204679.4:p.Leu105=
ENST00000204679.8:c.315C=	ENSP00000204679.4:p.Leu105=
ENST00000526820.5:c.*217C=	ENSP00000434413.1:n.*217C=
ENST00000527076.1:n.1331C=
ENST00000527168.5:n.351C=
ENST00000529110.1:c.382C=
ENST00000529957.5:n.414C=
NM_032520.4:c.315C=	NP_115909.1:p.Leu105=
XM_017023782.1:c.363C=	XP_016879271.1:p.Leu121=
XM_017023783.1:c.-46C=	XP_016879272.1:n.-46C=
NM_032520.5:c.315C= MANE Select	NP_115909.1:p.Leu105=