Canonical Allele Identifier: CA7807731

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2035024
• ClinVar RCV Id: RCV002877304
• dbSNP Id: rs759771367
• ExAC: 16:1412287 G / A
• gnomAD v2: 16-1412287-G-A
• gnomAD v4: 16-1362286-G-A
• MyVariant Identifiers: chr16:g.1412287G>A (hg19) ; chr16:g.1362286G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362286G>A , CM000678.2:g.1362286G>A	GRCh38
NC_000016.9:g.1412287G>A , CM000678.1:g.1412287G>A	GRCh37
NC_000016.8:g.1352288G>A	NCBI36
NG_016985.1:g.15388G>A
NG_033129.1:g.57419C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.591G>A
ENST00000529110.2:c.576G>A	ENSP00000435349.2:p.Glu192=
ENST00000529957.6:n.550G>A
ENST00000683366.1:c.*224G>A	ENSP00000507283.1:n.*224G>A
ENST00000683887.1:c.540G>A	ENSP00000506886.1:p.Glu180=
ENST00000684100.1:n.486G>A
ENST00000684126.1:n.550G>A
ENST00000684688.1:n.1117G>A
ENST00000204679.9:c.492G>A MANE Select	ENSP00000204679.4:p.Glu164=
ENST00000204679.8:c.492G>A	ENSP00000204679.4:p.Glu164=
ENST00000527076.1:n.1508G>A
ENST00000527168.5:n.528G>A
ENST00000529957.5:n.591G>A
NM_032520.4:c.492G>A	NP_115909.1:p.Glu164=
XM_017023782.1:c.540G>A	XP_016879271.1:p.Glu180=
XM_017023783.1:c.132G>A	XP_016879272.1:p.Glu44=
NM_032520.5:c.492G>A MANE Select	NP_115909.1:p.Glu164=