Canonical Allele Identifier: CA2201614536

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362060G= , CM000678.2:g.1362060G=	GRCh38
NC_000016.9:g.1412061G= , CM000678.1:g.1412061G=	GRCh37
NC_000016.8:g.1352062G=	NCBI36
NG_016985.1:g.15162G=
NG_033129.1:g.57645C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.439G=
ENST00000529110.2:c.424G=	ENSP00000435349.2:p.Ala142=
ENST00000529957.6:n.398G=
ENST00000683366.1:c.*72G=	ENSP00000507283.1:n.*72G=
ENST00000683887.1:c.388G=	ENSP00000506886.1:p.Ala130=
ENST00000684100.1:n.334G=
ENST00000684126.1:n.398G=
ENST00000684688.1:n.965G=
ENST00000204679.9:c.340G= MANE Select	ENSP00000204679.4:p.Ala114=
ENST00000204679.8:c.340G=	ENSP00000204679.4:p.Ala114=
ENST00000526820.5:c.*242G=	ENSP00000434413.1:n.*242G=
ENST00000527076.1:n.1356G=
ENST00000527168.5:n.376G=
ENST00000529110.1:c.407G=
ENST00000529957.5:n.439G=
NM_032520.4:c.340G=	NP_115909.1:p.Ala114=
XM_017023782.1:c.388G=	XP_016879271.1:p.Ala130=
XM_017023783.1:c.-21G=	XP_016879272.1:n.-21G=
NM_032520.5:c.340G= MANE Select	NP_115909.1:p.Ala114=