Canonical Allele Identifier: CA394187731

Gene: GNPTG

Linked Data

• dbSNP Id: rs1477774203
• gnomAD v2: 16-1412241-C-A
• gnomAD v3: 16-1362240-C-A
• gnomAD v4: 16-1362240-C-A
• MyVariant Identifiers: chr16:g.1412241C>A (hg19) ; chr16:g.1362240C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362240C>A , CM000678.2:g.1362240C>A	GRCh38
NC_000016.9:g.1412241C>A , CM000678.1:g.1412241C>A	GRCh37
NC_000016.8:g.1352242C>A	NCBI36
NG_016985.1:g.15342C>A
NG_033129.1:g.57465G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.545C>A
ENST00000529110.2:c.530C>A	ENSP00000435349.2:p.Ala177Asp
ENST00000529957.6:n.504C>A
ENST00000683366.1:c.*178C>A	ENSP00000507283.1:n.*178C>A
ENST00000683887.1:c.494C>A	ENSP00000506886.1:p.Ala165Asp
ENST00000684100.1:n.440C>A
ENST00000684126.1:n.504C>A
ENST00000684688.1:n.1071C>A
ENST00000204679.9:c.446C>A MANE Select	ENSP00000204679.4:p.Ala149Asp
ENST00000204679.8:c.446C>A	ENSP00000204679.4:p.Ala149Asp
ENST00000527076.1:n.1462C>A
ENST00000527168.5:n.482C>A
ENST00000529110.1:c.513C>A
ENST00000529957.5:n.545C>A
NM_032520.4:c.446C>A	NP_115909.1:p.Ala149Asp
XM_017023782.1:c.494C>A	XP_016879271.1:p.Ala165Asp
XM_017023783.1:c.86C>A	XP_016879272.1:p.Ala29Asp
NM_032520.5:c.446C>A MANE Select	NP_115909.1:p.Ala149Asp