Canonical Allele Identifier: CA2201615042

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362316G= , CM000678.2:g.1362316G=	GRCh38
NC_000016.9:g.1412317G= , CM000678.1:g.1412317G=	GRCh37
NC_000016.8:g.1352318G=	NCBI36
NG_016985.1:g.15418G=
NG_033129.1:g.57389C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.621G=
ENST00000529110.2:c.606G=	ENSP00000435349.2:p.Leu202=
ENST00000529957.6:n.580G=
ENST00000683366.1:c.*254G=	ENSP00000507283.1:n.*254G=
ENST00000683887.1:c.570G=	ENSP00000506886.1:p.Leu190=
ENST00000684100.1:n.516G=
ENST00000684126.1:n.580G=
ENST00000684688.1:n.1147G=
ENST00000204679.9:c.522G= MANE Select	ENSP00000204679.4:p.Leu174=
ENST00000204679.8:c.522G=	ENSP00000204679.4:p.Leu174=
ENST00000527076.1:n.1538G=
ENST00000527168.5:n.558G=
ENST00000529957.5:n.621G=
NM_032520.4:c.522G=	NP_115909.1:p.Leu174=
XM_017023782.1:c.570G=	XP_016879271.1:p.Leu190=
XM_017023783.1:c.162G=	XP_016879272.1:p.Leu54=
NM_032520.5:c.522G= MANE Select	NP_115909.1:p.Leu174=