Canonical Allele Identifier: CA7807546

Gene: GNPTG

Linked Data

• dbSNP Id: rs376636252
• ExAC: 16:1411834 G / A
• gnomAD v2: 16-1411834-G-A
• gnomAD v3: 16-1361833-G-A
• gnomAD v4: 16-1361833-G-A
• MyVariant Identifiers: chr16:g.1411834G>A (hg19) ; chr16:g.1361833G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361833G>A , CM000678.2:g.1361833G>A	GRCh38
NC_000016.9:g.1411834G>A , CM000678.1:g.1411834G>A	GRCh37
NC_000016.8:g.1351835G>A	NCBI36
NG_016985.1:g.14935G>A
NG_033129.1:g.57872C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.332+36G>A
ENST00000529110.2:c.317+36G>A	ENSP00000435349.2:n.317+36G>A
ENST00000529957.6:n.291+36G>A
ENST00000683366.1:c.179-39G>A	ENSP00000507283.1:n.179-39G>A
ENST00000683887.1:c.281+36G>A	ENSP00000506886.1:n.281+36G>A
ENST00000684100.1:n.189G>A
ENST00000684126.1:n.291+36G>A
ENST00000684688.1:n.858+36G>A
ENST00000204679.9:c.233+36G>A MANE Select	ENSP00000204679.4:n.233+36G>A
ENST00000204679.8:c.233+36G>A	ENSP00000204679.4:n.233+36G>A
ENST00000526820.5:c.*135+36G>A	ENSP00000434413.1:n.*135+36G>A
ENST00000527076.1:n.1211G>A
ENST00000527168.5:n.270-39G>A
ENST00000529110.1:c.300+36G>A
ENST00000529957.5:n.332+36G>A
NM_032520.4:c.233+36G>A	NP_115909.1:n.233+36G>A
XM_017023782.1:c.281+36G>A	XP_016879271.1:n.281+36G>A
XM_017023783.1:c.-128+36G>A	XP_016879272.1:n.-128+36G>A
NM_032520.5:c.233+36G>A MANE Select	NP_115909.1:n.233+36G>A