Canonical Allele Identifier: CA7807781

Gene: GNPTG

Linked Data

• dbSNP Id: rs753529251
• ExAC: 16:1412409 G / A
• gnomAD v2: 16-1412409-G-A
• gnomAD v3: 16-1362408-G-A
• gnomAD v4: 16-1362408-G-A
• MyVariant Identifiers: chr16:g.1412409G>A (hg19) ; chr16:g.1362408G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362408G>A , CM000678.2:g.1362408G>A	GRCh38
NC_000016.9:g.1412409G>A , CM000678.1:g.1412409G>A	GRCh37
NC_000016.8:g.1352410G>A	NCBI36
NG_016985.1:g.15510G>A
NG_033129.1:g.57297C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.626-44G>A
ENST00000529110.2:c.611-44G>A	ENSP00000435349.2:n.611-44G>A
ENST00000529957.6:n.585-44G>A
ENST00000683366.1:c.*259-44G>A	ENSP00000507283.1:n.*259-44G>A
ENST00000683887.1:c.575-44G>A	ENSP00000506886.1:n.575-44G>A
ENST00000684100.1:n.521-44G>A
ENST00000684126.1:n.585-44G>A
ENST00000684688.1:n.1152-44G>A
ENST00000204679.9:c.527-44G>A MANE Select	ENSP00000204679.4:n.527-44G>A
ENST00000204679.8:c.527-44G>A	ENSP00000204679.4:n.527-44G>A
ENST00000527076.1:n.1630G>A
ENST00000527168.5:n.650G>A
ENST00000529957.5:n.626-44G>A
NM_032520.4:c.527-44G>A	NP_115909.1:n.527-44G>A
XM_017023782.1:c.575-44G>A	XP_016879271.1:n.575-44G>A
XM_017023783.1:c.167-44G>A	XP_016879272.1:n.167-44G>A
NM_032520.5:c.527-44G>A MANE Select	NP_115909.1:n.527-44G>A