Canonical Allele Identifier: CA2201614229

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361936G= , CM000678.2:g.1361936G=	GRCh38
NC_000016.9:g.1411937G= , CM000678.1:g.1411937G=	GRCh37
NC_000016.8:g.1351938G=	NCBI36
NG_016985.1:g.15038G=
NG_033129.1:g.57769C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.397G=
ENST00000529110.2:c.382G=	ENSP00000435349.2:p.Ala128=
ENST00000529957.6:n.356G=
ENST00000683366.1:c.*30G=	ENSP00000507283.1:n.*30G=
ENST00000683887.1:c.346G=	ENSP00000506886.1:p.Ala116=
ENST00000684100.1:n.292G=
ENST00000684126.1:n.356G=
ENST00000684688.1:n.923G=
ENST00000204679.9:c.298G= MANE Select	ENSP00000204679.4:p.Ala100=
ENST00000204679.8:c.298G=	ENSP00000204679.4:p.Ala100=
ENST00000526820.5:c.*200G=	ENSP00000434413.1:n.*200G=
ENST00000527076.1:n.1314G=
ENST00000527168.5:n.334G=
ENST00000529110.1:c.365G=
ENST00000529957.5:n.397G=
NM_032520.4:c.298G=	NP_115909.1:p.Ala100=
XM_017023782.1:c.346G=	XP_016879271.1:p.Ala116=
XM_017023783.1:c.-63G=	XP_016879272.1:n.-63G=
NM_032520.5:c.298G= MANE Select	NP_115909.1:p.Ala100=