Canonical Allele Identifier: CA276659396

Gene: GNPTG

Linked Data

• dbSNP Id: rs949679887
• gnomAD v3: 16-1362905-A-G
• gnomAD v4: 16-1362905-A-G
• MyVariant Identifiers: chr16:g.1412906A>G (hg19) ; chr16:g.1362905A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362905A>G , CM000678.2:g.1362905A>G	GRCh38
NC_000016.9:g.1412906A>G , CM000678.1:g.1412906A>G	GRCh37
NC_000016.8:g.1352907A>G	NCBI36
NG_016985.1:g.16007A>G
NG_033129.1:g.56800T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.921A>G
ENST00000529110.2:c.906A>G	ENSP00000435349.2:p.Thr302=
ENST00000529957.6:n.880A>G
ENST00000683366.1:c.*554A>G	ENSP00000507283.1:n.*554A>G
ENST00000683887.1:c.870A>G	ENSP00000506886.1:p.Thr290=
ENST00000684100.1:n.816A>G
ENST00000684126.1:n.956A>G
ENST00000684688.1:n.1447A>G
ENST00000204679.9:c.822A>G MANE Select	ENSP00000204679.4:p.Thr274=
ENST00000204679.8:c.822A>G	ENSP00000204679.4:p.Thr274=
ENST00000527076.1:n.2045A>G
ENST00000527168.5:n.989A>G
ENST00000529957.5:n.921A>G
NM_032520.4:c.822A>G	NP_115909.1:p.Thr274=
XM_017023782.1:c.870A>G	XP_016879271.1:p.Thr290=
XM_017023783.1:c.462A>G	XP_016879272.1:p.Thr154=
NM_032520.5:c.822A>G MANE Select	NP_115909.1:p.Thr274=