Canonical Allele Identifier: CA7807796

Gene: GNPTG

Linked Data

• dbSNP Id: rs773159644
• ExAC: 16:1412461 A / G
• gnomAD v2: 16-1412461-A-G
• gnomAD v4: 16-1362460-A-G
• MyVariant Identifiers: chr16:g.1412461A>G (hg19) ; chr16:g.1362460A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362460A>G , CM000678.2:g.1362460A>G	GRCh38
NC_000016.9:g.1412461A>G , CM000678.1:g.1412461A>G	GRCh37
NC_000016.8:g.1352462A>G	NCBI36
NG_016985.1:g.15562A>G
NG_033129.1:g.57245T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.634A>G
ENST00000529110.2:c.619A>G	ENSP00000435349.2:p.Thr207Ala
ENST00000529957.6:n.593A>G
ENST00000683366.1:c.*267A>G	ENSP00000507283.1:n.*267A>G
ENST00000683887.1:c.583A>G	ENSP00000506886.1:p.Thr195Ala
ENST00000684100.1:n.529A>G
ENST00000684126.1:n.593A>G
ENST00000684688.1:n.1160A>G
ENST00000204679.9:c.535A>G MANE Select	ENSP00000204679.4:p.Thr179Ala
ENST00000204679.8:c.535A>G	ENSP00000204679.4:p.Thr179Ala
ENST00000527076.1:n.1682A>G
ENST00000527168.5:n.702A>G
ENST00000529957.5:n.634A>G
NM_032520.4:c.535A>G	NP_115909.1:p.Thr179Ala
XM_017023782.1:c.583A>G	XP_016879271.1:p.Thr195Ala
XM_017023783.1:c.175A>G	XP_016879272.1:p.Thr59Ala
NM_032520.5:c.535A>G MANE Select	NP_115909.1:p.Thr179Ala