Canonical Allele Identifier: CA7807759

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2901912
• ClinVar RCV Id: RCV003731519
• dbSNP Id: rs766995250
• ExAC: 16:1412338 C / G
• gnomAD v2: 16-1412338-C-G
• gnomAD v4: 16-1362337-C-G
• MyVariant Identifiers: chr16:g.1412338C>G (hg19) ; chr16:g.1362337C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362337C>G , CM000678.2:g.1362337C>G	GRCh38
NC_000016.9:g.1412338C>G , CM000678.1:g.1412338C>G	GRCh37
NC_000016.8:g.1352339C>G	NCBI36
NG_016985.1:g.15439C>G
NG_033129.1:g.57368G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.625+17C>G
ENST00000529110.2:c.610+17C>G	ENSP00000435349.2:n.610+17C>G
ENST00000529957.6:n.584+17C>G
ENST00000683366.1:c.*258+17C>G	ENSP00000507283.1:n.*258+17C>G
ENST00000683887.1:c.574+17C>G	ENSP00000506886.1:n.574+17C>G
ENST00000684100.1:n.520+17C>G
ENST00000684126.1:n.584+17C>G
ENST00000684688.1:n.1151+17C>G
ENST00000204679.9:c.526+17C>G MANE Select	ENSP00000204679.4:n.526+17C>G
ENST00000204679.8:c.526+17C>G	ENSP00000204679.4:n.526+17C>G
ENST00000527076.1:n.1559C>G
ENST00000527168.5:n.579C>G
ENST00000529957.5:n.625+17C>G
NM_032520.4:c.526+17C>G	NP_115909.1:n.526+17C>G
XM_017023782.1:c.574+17C>G	XP_016879271.1:n.574+17C>G
XM_017023783.1:c.166+17C>G	XP_016879272.1:n.166+17C>G
NM_032520.5:c.526+17C>G MANE Select	NP_115909.1:n.526+17C>G