Canonical Allele Identifier: CA2201614174

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361922C= , CM000678.2:g.1361922C=	GRCh38
NC_000016.9:g.1411923C= , CM000678.1:g.1411923C=	GRCh37
NC_000016.8:g.1351924C=	NCBI36
NG_016985.1:g.15024C=
NG_033129.1:g.57783G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.383C=
ENST00000529110.2:c.368C=	ENSP00000435349.2:p.Thr123=
ENST00000529957.6:n.342C=
ENST00000683366.1:c.*16C=	ENSP00000507283.1:n.*16C=
ENST00000683887.1:c.332C=	ENSP00000506886.1:p.Thr111=
ENST00000684100.1:n.278C=
ENST00000684126.1:n.342C=
ENST00000684688.1:n.909C=
ENST00000204679.9:c.284C= MANE Select	ENSP00000204679.4:p.Thr95=
ENST00000204679.8:c.284C=	ENSP00000204679.4:p.Thr95=
ENST00000526820.5:c.*186C=	ENSP00000434413.1:n.*186C=
ENST00000527076.1:n.1300C=
ENST00000527168.5:n.320C=
ENST00000529110.1:c.351C=
ENST00000529957.5:n.383C=
NM_032520.4:c.284C=	NP_115909.1:p.Thr95=
XM_017023782.1:c.332C=	XP_016879271.1:p.Thr111=
XM_017023783.1:c.-77C=	XP_016879272.1:n.-77C=
NM_032520.5:c.284C= MANE Select	NP_115909.1:p.Thr95=