Canonical Allele Identifier: CA7807845

Gene: GNPTG

Linked Data

• dbSNP Id: rs761072266
• ExAC: 16:1412576 G / T
• gnomAD v2: 16-1412576-G-T
• gnomAD v4: 16-1362575-G-T
• MyVariant Identifiers: chr16:g.1412576G>T (hg19) ; chr16:g.1362575G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362575G>T , CM000678.2:g.1362575G>T	GRCh38
NC_000016.9:g.1412576G>T , CM000678.1:g.1412576G>T	GRCh37
NC_000016.8:g.1352577G>T	NCBI36
NG_016985.1:g.15677G>T
NG_033129.1:g.57130C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.709-36G>T
ENST00000529110.2:c.694-36G>T	ENSP00000435349.2:n.694-36G>T
ENST00000529957.6:n.668-36G>T
ENST00000683366.1:c.*342-36G>T	ENSP00000507283.1:n.*342-36G>T
ENST00000683887.1:c.658-36G>T	ENSP00000506886.1:n.658-36G>T
ENST00000684100.1:n.604-36G>T
ENST00000684126.1:n.708G>T
ENST00000684688.1:n.1235-36G>T
ENST00000204679.9:c.610-36G>T MANE Select	ENSP00000204679.4:n.610-36G>T
ENST00000204679.8:c.610-36G>T	ENSP00000204679.4:n.610-36G>T
ENST00000527076.1:n.1797G>T
ENST00000527168.5:n.777-36G>T
ENST00000529957.5:n.709-36G>T
NM_032520.4:c.610-36G>T	NP_115909.1:n.610-36G>T
XM_017023782.1:c.658-36G>T	XP_016879271.1:n.658-36G>T
XM_017023783.1:c.250-36G>T	XP_016879272.1:n.250-36G>T
NM_032520.5:c.610-36G>T MANE Select	NP_115909.1:n.610-36G>T