Canonical Allele Identifier: CA620700154

Gene: GNPTG

Linked Data

• dbSNP Id: rs1293925377
• gnomAD v2: 16-1412156-G-A
• gnomAD v4: 16-1362155-G-A
• MyVariant Identifiers: chr16:g.1412156G>A (hg19) ; chr16:g.1362155G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362155G>A , CM000678.2:g.1362155G>A	GRCh38
NC_000016.9:g.1412156G>A , CM000678.1:g.1412156G>A	GRCh37
NC_000016.8:g.1352157G>A	NCBI36
NG_016985.1:g.15257G>A
NG_033129.1:g.57550C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.510+24G>A
ENST00000529110.2:c.495+24G>A	ENSP00000435349.2:n.495+24G>A
ENST00000529957.6:n.469+24G>A
ENST00000683366.1:c.*143+24G>A	ENSP00000507283.1:n.*143+24G>A
ENST00000683887.1:c.459+24G>A	ENSP00000506886.1:n.459+24G>A
ENST00000684100.1:n.405+24G>A
ENST00000684126.1:n.469+24G>A
ENST00000684688.1:n.1036+24G>A
ENST00000204679.9:c.411+24G>A MANE Select	ENSP00000204679.4:n.411+24G>A
ENST00000204679.8:c.411+24G>A	ENSP00000204679.4:n.411+24G>A
ENST00000527076.1:n.1427+24G>A
ENST00000527168.5:n.447+24G>A
ENST00000529110.1:c.478+24G>A
ENST00000529957.5:n.510+24G>A
NM_032520.4:c.411+24G>A	NP_115909.1:n.411+24G>A
XM_017023782.1:c.459+24G>A	XP_016879271.1:n.459+24G>A
XM_017023783.1:c.51+24G>A	XP_016879272.1:n.51+24G>A
NM_032520.5:c.411+24G>A MANE Select	NP_115909.1:n.411+24G>A