Canonical Allele Identifier: CA276658667

Gene: GNPTG

Linked Data

• dbSNP Id: rs890055206
• gnomAD v2: 16-1412632-G-A
• gnomAD v3: 16-1362631-G-A
• gnomAD v4: 16-1362631-G-A
• COSMIC: COSM434663
• MyVariant Identifiers: chr16:g.1412632G>A (hg19) ; chr16:g.1362631G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362631G>A , CM000678.2:g.1362631G>A	GRCh38
NC_000016.9:g.1412632G>A , CM000678.1:g.1412632G>A	GRCh37
NC_000016.8:g.1352633G>A	NCBI36
NG_016985.1:g.15733G>A
NG_033129.1:g.57074C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.729G>A
ENST00000529110.2:c.714G>A	ENSP00000435349.2:p.Arg238=
ENST00000529957.6:n.688G>A
ENST00000683366.1:c.*362G>A	ENSP00000507283.1:n.*362G>A
ENST00000683887.1:c.678G>A	ENSP00000506886.1:p.Arg226=
ENST00000684100.1:n.624G>A
ENST00000684126.1:n.764G>A
ENST00000684688.1:n.1255G>A
ENST00000204679.9:c.630G>A MANE Select	ENSP00000204679.4:p.Arg210=
ENST00000204679.8:c.630G>A	ENSP00000204679.4:p.Arg210=
ENST00000527076.1:n.1853G>A
ENST00000527168.5:n.797G>A
ENST00000529957.5:n.729G>A
NM_032520.4:c.630G>A	NP_115909.1:p.Arg210=
XM_017023782.1:c.678G>A	XP_016879271.1:p.Arg226=
XM_017023783.1:c.270G>A	XP_016879272.1:p.Arg90=
NM_032520.5:c.630G>A MANE Select	NP_115909.1:p.Arg210=