Canonical Allele Identifier: CA2201614462

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362041C= , CM000678.2:g.1362041C=	GRCh38
NC_000016.9:g.1412042C= , CM000678.1:g.1412042C=	GRCh37
NC_000016.8:g.1352043C=	NCBI36
NG_016985.1:g.15143C=
NG_033129.1:g.57664G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.420C=
ENST00000529110.2:c.405C=	ENSP00000435349.2:p.Ile135=
ENST00000529957.6:n.379C=
ENST00000683366.1:c.*53C=	ENSP00000507283.1:n.*53C=
ENST00000683887.1:c.369C=	ENSP00000506886.1:p.Ile123=
ENST00000684100.1:n.315C=
ENST00000684126.1:n.379C=
ENST00000684688.1:n.946C=
ENST00000204679.9:c.321C= MANE Select	ENSP00000204679.4:p.Ile107=
ENST00000204679.8:c.321C=	ENSP00000204679.4:p.Ile107=
ENST00000526820.5:c.*223C=	ENSP00000434413.1:n.*223C=
ENST00000527076.1:n.1337C=
ENST00000527168.5:n.357C=
ENST00000529110.1:c.388C=
ENST00000529957.5:n.420C=
NM_032520.4:c.321C=	NP_115909.1:p.Ile107=
XM_017023782.1:c.369C=	XP_016879271.1:p.Ile123=
XM_017023783.1:c.-40C=	XP_016879272.1:n.-40C=
NM_032520.5:c.321C= MANE Select	NP_115909.1:p.Ile107=