Canonical Allele Identifier: CA7807782

Gene: GNPTG

Linked Data

• dbSNP Id: rs754601335
• ExAC: 16:1412410 G / A
• gnomAD v2: 16-1412410-G-A
• gnomAD v4: 16-1362409-G-A
• MyVariant Identifiers: chr16:g.1412410G>A (hg19) ; chr16:g.1362409G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362409G>A , CM000678.2:g.1362409G>A	GRCh38
NC_000016.9:g.1412410G>A , CM000678.1:g.1412410G>A	GRCh37
NC_000016.8:g.1352411G>A	NCBI36
NG_016985.1:g.15511G>A
NG_033129.1:g.57296C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.626-43G>A
ENST00000529110.2:c.611-43G>A	ENSP00000435349.2:n.611-43G>A
ENST00000529957.6:n.585-43G>A
ENST00000683366.1:c.*259-43G>A	ENSP00000507283.1:n.*259-43G>A
ENST00000683887.1:c.575-43G>A	ENSP00000506886.1:n.575-43G>A
ENST00000684100.1:n.521-43G>A
ENST00000684126.1:n.585-43G>A
ENST00000684688.1:n.1152-43G>A
ENST00000204679.9:c.527-43G>A MANE Select	ENSP00000204679.4:n.527-43G>A
ENST00000204679.8:c.527-43G>A	ENSP00000204679.4:n.527-43G>A
ENST00000527076.1:n.1631G>A
ENST00000527168.5:n.651G>A
ENST00000529957.5:n.626-43G>A
NM_032520.4:c.527-43G>A	NP_115909.1:n.527-43G>A
XM_017023782.1:c.575-43G>A	XP_016879271.1:n.575-43G>A
XM_017023783.1:c.167-43G>A	XP_016879272.1:n.167-43G>A
NM_032520.5:c.527-43G>A MANE Select	NP_115909.1:n.527-43G>A