Canonical Allele Identifier: CA620700194

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1106054
• ClinVar RCV Id: RCV001430677
• dbSNP Id: rs1452379280
• gnomAD v2: 16-1412330-G-A
• gnomAD v4: 16-1362329-G-A
• MyVariant Identifiers: chr16:g.1412330G>A (hg19) ; chr16:g.1362329G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362329G>A , CM000678.2:g.1362329G>A	GRCh38
NC_000016.9:g.1412330G>A , CM000678.1:g.1412330G>A	GRCh37
NC_000016.8:g.1352331G>A	NCBI36
NG_016985.1:g.15431G>A
NG_033129.1:g.57376C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.625+9G>A
ENST00000529110.2:c.610+9G>A	ENSP00000435349.2:n.610+9G>A
ENST00000529957.6:n.584+9G>A
ENST00000683366.1:c.*258+9G>A	ENSP00000507283.1:n.*258+9G>A
ENST00000683887.1:c.574+9G>A	ENSP00000506886.1:n.574+9G>A
ENST00000684100.1:n.520+9G>A
ENST00000684126.1:n.584+9G>A
ENST00000684688.1:n.1151+9G>A
ENST00000204679.9:c.526+9G>A MANE Select	ENSP00000204679.4:n.526+9G>A
ENST00000204679.8:c.526+9G>A	ENSP00000204679.4:n.526+9G>A
ENST00000527076.1:n.1551G>A
ENST00000527168.5:n.571G>A
ENST00000529957.5:n.625+9G>A
NM_032520.4:c.526+9G>A	NP_115909.1:n.526+9G>A
XM_017023782.1:c.574+9G>A	XP_016879271.1:n.574+9G>A
XM_017023783.1:c.166+9G>A	XP_016879272.1:n.166+9G>A
NM_032520.5:c.526+9G>A MANE Select	NP_115909.1:n.526+9G>A