Canonical Allele Identifier: CA7807756

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1561811
• ClinVar RCV Id: RCV002212095
• dbSNP Id: rs764162165
• ExAC: 16:1412332 G / A
• gnomAD v2: 16-1412332-G-A
• gnomAD v3: 16-1362331-G-A
• gnomAD v4: 16-1362331-G-A
• MyVariant Identifiers: chr16:g.1412332G>A (hg19) ; chr16:g.1362331G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362331G>A , CM000678.2:g.1362331G>A	GRCh38
NC_000016.9:g.1412332G>A , CM000678.1:g.1412332G>A	GRCh37
NC_000016.8:g.1352333G>A	NCBI36
NG_016985.1:g.15433G>A
NG_033129.1:g.57374C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.625+11G>A
ENST00000529110.2:c.610+11G>A	ENSP00000435349.2:n.610+11G>A
ENST00000529957.6:n.584+11G>A
ENST00000683366.1:c.*258+11G>A	ENSP00000507283.1:n.*258+11G>A
ENST00000683887.1:c.574+11G>A	ENSP00000506886.1:n.574+11G>A
ENST00000684100.1:n.520+11G>A
ENST00000684126.1:n.584+11G>A
ENST00000684688.1:n.1151+11G>A
ENST00000204679.9:c.526+11G>A MANE Select	ENSP00000204679.4:n.526+11G>A
ENST00000204679.8:c.526+11G>A	ENSP00000204679.4:n.526+11G>A
ENST00000527076.1:n.1553G>A
ENST00000527168.5:n.573G>A
ENST00000529957.5:n.625+11G>A
NM_032520.4:c.526+11G>A	NP_115909.1:n.526+11G>A
XM_017023782.1:c.574+11G>A	XP_016879271.1:n.574+11G>A
XM_017023783.1:c.166+11G>A	XP_016879272.1:n.166+11G>A
NM_032520.5:c.526+11G>A MANE Select	NP_115909.1:n.526+11G>A