Canonical Allele Identifier: CA2201615186

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362517G= , CM000678.2:g.1362517G=	GRCh38
NC_000016.9:g.1412518G= , CM000678.1:g.1412518G=	GRCh37
NC_000016.8:g.1352519G=	NCBI36
NG_016985.1:g.15619G=
NG_033129.1:g.57188C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.691G=
ENST00000529110.2:c.676G=	ENSP00000435349.2:p.Glu226=
ENST00000529957.6:n.650G=
ENST00000683366.1:c.*324G=	ENSP00000507283.1:n.*324G=
ENST00000683887.1:c.640G=	ENSP00000506886.1:p.Glu214=
ENST00000684100.1:n.586G=
ENST00000684126.1:n.650G=
ENST00000684688.1:n.1217G=
ENST00000204679.9:c.592G= MANE Select	ENSP00000204679.4:p.Glu198=
ENST00000204679.8:c.592G=	ENSP00000204679.4:p.Glu198=
ENST00000527076.1:n.1739G=
ENST00000527168.5:n.759G=
ENST00000529957.5:n.691G=
NM_032520.4:c.592G=	NP_115909.1:p.Glu198=
XM_017023782.1:c.640G=	XP_016879271.1:p.Glu214=
XM_017023783.1:c.232G=	XP_016879272.1:p.Glu78=
NM_032520.5:c.592G= MANE Select	NP_115909.1:p.Glu198=