Canonical Allele Identifier: CA493026649

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412701T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362700T>A , CM000678.2:g.1362700T>A	GRCh38
NC_000016.9:g.1412701T>A , CM000678.1:g.1412701T>A	GRCh37
NC_000016.8:g.1352702T>A	NCBI36
NG_016985.1:g.15802T>A
NG_033129.1:g.57005A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.798T>A
ENST00000529110.2:c.783T>A	ENSP00000435349.2:p.Gly261=
ENST00000529957.6:n.757T>A
ENST00000683366.1:c.*431T>A	ENSP00000507283.1:n.*431T>A
ENST00000683887.1:c.747T>A	ENSP00000506886.1:p.Gly249=
ENST00000684100.1:n.693T>A
ENST00000684126.1:n.833T>A
ENST00000684688.1:n.1324T>A
ENST00000204679.9:c.699T>A MANE Select	ENSP00000204679.4:p.Gly233=
ENST00000204679.8:c.699T>A	ENSP00000204679.4:p.Gly233=
ENST00000527076.1:n.1922T>A
ENST00000527168.5:n.866T>A
ENST00000529957.5:n.798T>A
NM_032520.4:c.699T>A	NP_115909.1:p.Gly233=
XM_017023782.1:c.747T>A	XP_016879271.1:p.Gly249=
XM_017023783.1:c.339T>A	XP_016879272.1:p.Gly113=
NM_032520.5:c.699T>A MANE Select	NP_115909.1:p.Gly233=