Canonical Allele Identifier: CA7807720

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1027074
• ClinVar RCV Id: RCV001327624 ; RCV001836319
• dbSNP Id: rs756971692
• ExAC: 16:1412273 G / A
• gnomAD v2: 16-1412273-G-A
• gnomAD v3: 16-1362272-G-A
• gnomAD v4: 16-1362272-G-A
• MyVariant Identifiers: chr16:g.1412273G>A (hg19) ; chr16:g.1362272G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362272G>A , CM000678.2:g.1362272G>A	GRCh38
NC_000016.9:g.1412273G>A , CM000678.1:g.1412273G>A	GRCh37
NC_000016.8:g.1352274G>A	NCBI36
NG_016985.1:g.15374G>A
NG_033129.1:g.57433C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.577G>A
ENST00000529110.2:c.562G>A	ENSP00000435349.2:p.Ala188Thr
ENST00000529957.6:n.536G>A
ENST00000683366.1:c.*210G>A	ENSP00000507283.1:n.*210G>A
ENST00000683887.1:c.526G>A	ENSP00000506886.1:p.Ala176Thr
ENST00000684100.1:n.472G>A
ENST00000684126.1:n.536G>A
ENST00000684688.1:n.1103G>A
ENST00000204679.9:c.478G>A MANE Select	ENSP00000204679.4:p.Ala160Thr
ENST00000204679.8:c.478G>A	ENSP00000204679.4:p.Ala160Thr
ENST00000527076.1:n.1494G>A
ENST00000527168.5:n.514G>A
ENST00000529110.1:c.545G>A
ENST00000529957.5:n.577G>A
NM_032520.4:c.478G>A	NP_115909.1:p.Ala160Thr
XM_017023782.1:c.526G>A	XP_016879271.1:p.Ala176Thr
XM_017023783.1:c.118G>A	XP_016879272.1:p.Ala40Thr
NM_032520.5:c.478G>A MANE Select	NP_115909.1:p.Ala160Thr