Canonical Allele Identifier: CA2201613760

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361765C= , CM000678.2:g.1361765C=	GRCh38
NC_000016.9:g.1411766C= , CM000678.1:g.1411766C=	GRCh37
NC_000016.8:g.1351767C=	NCBI36
NG_016985.1:g.14867C=
NG_033129.1:g.57940G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.300C=
ENST00000529110.2:c.285C=	ENSP00000435349.2:p.Leu95=
ENST00000529957.6:n.259C=
ENST00000683366.1:c.179-107C=	ENSP00000507283.1:n.179-107C=
ENST00000683887.1:c.249C=	ENSP00000506886.1:p.Leu83=
ENST00000684100.1:n.121C=
ENST00000684126.1:n.259C=
ENST00000684688.1:n.826C=
ENST00000204679.9:c.201C= MANE Select	ENSP00000204679.4:p.Leu67=
ENST00000204679.8:c.201C=	ENSP00000204679.4:p.Leu67=
ENST00000526820.5:c.*103C=	ENSP00000434413.1:n.*103C=
ENST00000527076.1:n.1143C=
ENST00000527168.5:n.270-107C=
ENST00000529110.1:c.268C=
ENST00000529957.5:n.300C=
NM_032520.4:c.201C=	NP_115909.1:p.Leu67=
XM_017023782.1:c.249C=	XP_016879271.1:p.Leu83=
XM_017023783.1:c.-160C=	XP_016879272.1:n.-160C=
NM_032520.5:c.201C= MANE Select	NP_115909.1:p.Leu67=