Canonical Allele Identifier: CA493026492

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362223-A-G
• MyVariant Identifiers: chr16:g.1412224A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362223A>G , CM000678.2:g.1362223A>G	GRCh38
NC_000016.9:g.1412224A>G , CM000678.1:g.1412224A>G	GRCh37
NC_000016.8:g.1352225A>G	NCBI36
NG_016985.1:g.15325A>G
NG_033129.1:g.57482T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.528A>G
ENST00000529110.2:c.513A>G	ENSP00000435349.2:p.Gly171=
ENST00000529957.6:n.487A>G
ENST00000683366.1:c.*161A>G	ENSP00000507283.1:n.*161A>G
ENST00000683887.1:c.477A>G	ENSP00000506886.1:p.Gly159=
ENST00000684100.1:n.423A>G
ENST00000684126.1:n.487A>G
ENST00000684688.1:n.1054A>G
ENST00000204679.9:c.429A>G MANE Select	ENSP00000204679.4:p.Gly143=
ENST00000204679.8:c.429A>G	ENSP00000204679.4:p.Gly143=
ENST00000527076.1:n.1445A>G
ENST00000527168.5:n.465A>G
ENST00000529110.1:c.496A>G
ENST00000529957.5:n.528A>G
NM_032520.4:c.429A>G	NP_115909.1:p.Gly143=
XM_017023782.1:c.477A>G	XP_016879271.1:p.Gly159=
XM_017023783.1:c.69A>G	XP_016879272.1:p.Gly23=
NM_032520.5:c.429A>G MANE Select	NP_115909.1:p.Gly143=