Canonical Allele Identifier: CA2201614530

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362059C= , CM000678.2:g.1362059C=	GRCh38
NC_000016.9:g.1412060C= , CM000678.1:g.1412060C=	GRCh37
NC_000016.8:g.1352061C=	NCBI36
NG_016985.1:g.15161C=
NG_033129.1:g.57646G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.438C=
ENST00000529110.2:c.423C=	ENSP00000435349.2:p.Ile141=
ENST00000529957.6:n.397C=
ENST00000683366.1:c.*71C=	ENSP00000507283.1:n.*71C=
ENST00000683887.1:c.387C=	ENSP00000506886.1:p.Ile129=
ENST00000684100.1:n.333C=
ENST00000684126.1:n.397C=
ENST00000684688.1:n.964C=
ENST00000204679.9:c.339C= MANE Select	ENSP00000204679.4:p.Ile113=
ENST00000204679.8:c.339C=	ENSP00000204679.4:p.Ile113=
ENST00000526820.5:c.*241C=	ENSP00000434413.1:n.*241C=
ENST00000527076.1:n.1355C=
ENST00000527168.5:n.375C=
ENST00000529110.1:c.406C=
ENST00000529957.5:n.438C=
NM_032520.4:c.339C=	NP_115909.1:p.Ile113=
XM_017023782.1:c.387C=	XP_016879271.1:p.Ile129=
XM_017023783.1:c.-22C=	XP_016879272.1:n.-22C=
NM_032520.5:c.339C= MANE Select	NP_115909.1:p.Ile113=