Canonical Allele Identifier: CA2201614195

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361926C= , CM000678.2:g.1361926C=	GRCh38
NC_000016.9:g.1411927C= , CM000678.1:g.1411927C=	GRCh37
NC_000016.8:g.1351928C=	NCBI36
NG_016985.1:g.15028C=
NG_033129.1:g.57779G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.387C=
ENST00000529110.2:c.372C=	ENSP00000435349.2:p.Phe124=
ENST00000529957.6:n.346C=
ENST00000683366.1:c.*20C=	ENSP00000507283.1:n.*20C=
ENST00000683887.1:c.336C=	ENSP00000506886.1:p.Phe112=
ENST00000684100.1:n.282C=
ENST00000684126.1:n.346C=
ENST00000684688.1:n.913C=
ENST00000204679.9:c.288C= MANE Select	ENSP00000204679.4:p.Phe96=
ENST00000204679.8:c.288C=	ENSP00000204679.4:p.Phe96=
ENST00000526820.5:c.*190C=	ENSP00000434413.1:n.*190C=
ENST00000527076.1:n.1304C=
ENST00000527168.5:n.324C=
ENST00000529110.1:c.355C=
ENST00000529957.5:n.387C=
NM_032520.4:c.288C=	NP_115909.1:p.Phe96=
XM_017023782.1:c.336C=	XP_016879271.1:p.Phe112=
XM_017023783.1:c.-73C=	XP_016879272.1:n.-73C=
NM_032520.5:c.288C= MANE Select	NP_115909.1:p.Phe96=