Canonical Allele Identifier: CA7807749

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2162479
• ClinVar RCV Id: RCV003091298
• dbSNP Id: rs748204437
• ExAC: 16:1412312 G / A
• gnomAD v2: 16-1412312-G-A
• gnomAD v3: 16-1362311-G-A
• gnomAD v4: 16-1362311-G-A
• COSMIC: COSM4935315
• MyVariant Identifiers: chr16:g.1412312G>A (hg19) ; chr16:g.1362311G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362311G>A , CM000678.2:g.1362311G>A	GRCh38
NC_000016.9:g.1412312G>A , CM000678.1:g.1412312G>A	GRCh37
NC_000016.8:g.1352313G>A	NCBI36
NG_016985.1:g.15413G>A
NG_033129.1:g.57394C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.616G>A
ENST00000529110.2:c.601G>A	ENSP00000435349.2:p.Ala201Thr
ENST00000529957.6:n.575G>A
ENST00000683366.1:c.*249G>A	ENSP00000507283.1:n.*249G>A
ENST00000683887.1:c.565G>A	ENSP00000506886.1:p.Ala189Thr
ENST00000684100.1:n.511G>A
ENST00000684126.1:n.575G>A
ENST00000684688.1:n.1142G>A
ENST00000204679.9:c.517G>A MANE Select	ENSP00000204679.4:p.Ala173Thr
ENST00000204679.8:c.517G>A	ENSP00000204679.4:p.Ala173Thr
ENST00000527076.1:n.1533G>A
ENST00000527168.5:n.553G>A
ENST00000529957.5:n.616G>A
NM_032520.4:c.517G>A	NP_115909.1:p.Ala173Thr
XM_017023782.1:c.565G>A	XP_016879271.1:p.Ala189Thr
XM_017023783.1:c.157G>A	XP_016879272.1:p.Ala53Thr
NM_032520.5:c.517G>A MANE Select	NP_115909.1:p.Ala173Thr