Canonical Allele Identifier: CA7807996

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1363010G>A , CM000678.2:g.1363010G>A	GRCh38
NC_000016.9:g.1413011G>A , CM000678.1:g.1413011G>A	GRCh37
NC_000016.8:g.1353012G>A	NCBI36
NG_016985.1:g.16112G>A
NG_033129.1:g.56695C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032520.5:c.837G>A MANE Select	NP_115909.1:p.Leu279=
ENST00000204679.9:c.837G>A MANE Select	ENSP00000204679.4:p.Leu279=
NM_032520.4:c.837G>A	NP_115909.1:p.Leu279=
ENST00000204679.8:c.837G>A	ENSP00000204679.4:p.Leu279=
ENST00000527076.1:n.2060G>A
ENST00000527168.5:n.1004G>A
ENST00000527168.6:n.936G>A
ENST00000529110.2:c.921G>A	ENSP00000435349.2:p.Leu307=
ENST00000529957.6:n.895G>A
ENST00000683366.1:c.*569G>A	ENSP00000507283.1:n.*569G>A
ENST00000683887.1:c.885G>A	ENSP00000506886.1:p.Leu295=
ENST00000684100.1:n.831G>A
ENST00000684126.1:n.971G>A
ENST00000684688.1:n.1462G>A
XM_017023782.1:c.885G>A	XP_016879271.1:p.Leu295=
XM_017023783.1:c.477G>A	XP_016879272.1:p.Leu159=