Canonical Allele Identifier: CA2739269834

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2840118
• ClinVar RCV Id: RCV003716209

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362817G>A , CM000678.2:g.1362817G>A	GRCh38
NC_000016.9:g.1412818G>A , CM000678.1:g.1412818G>A	GRCh37
NC_000016.8:g.1352819G>A	NCBI36
NG_016985.1:g.15919G>A
NG_033129.1:g.56888C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.841-8G>A
ENST00000529110.2:c.826-8G>A	ENSP00000435349.2:n.826-8G>A
ENST00000529957.6:n.800-8G>A
ENST00000683366.1:c.*474-8G>A	ENSP00000507283.1:n.*474-8G>A
ENST00000683887.1:c.790-8G>A	ENSP00000506886.1:n.790-8G>A
ENST00000684100.1:n.736-8G>A
ENST00000684126.1:n.876-8G>A
ENST00000684688.1:n.1367-8G>A
ENST00000204679.9:c.742-8G>A MANE Select	ENSP00000204679.4:n.742-8G>A
ENST00000204679.8:c.742-8G>A	ENSP00000204679.4:n.742-8G>A
ENST00000527076.1:n.1965-8G>A
ENST00000527168.5:n.909-8G>A
ENST00000529957.5:n.841-8G>A
NM_032520.4:c.742-8G>A	NP_115909.1:n.742-8G>A
XM_017023782.1:c.790-8G>A	XP_016879271.1:n.790-8G>A
XM_017023783.1:c.382-8G>A	XP_016879272.1:n.382-8G>A
NM_032520.5:c.742-8G>A MANE Select	NP_115909.1:n.742-8G>A