Canonical Allele Identifier: CA7807867

Gene: GNPTG

Linked Data

• dbSNP Id: rs760155537
• ExAC: 16:1412651 G / A
• gnomAD v2: 16-1412651-G-A
• gnomAD v4: 16-1362650-G-A
• MyVariant Identifiers: chr16:g.1412651G>A (hg19) ; chr16:g.1362650G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362650G>A , CM000678.2:g.1362650G>A	GRCh38
NC_000016.9:g.1412651G>A , CM000678.1:g.1412651G>A	GRCh37
NC_000016.8:g.1352652G>A	NCBI36
NG_016985.1:g.15752G>A
NG_033129.1:g.57055C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.748G>A
ENST00000529110.2:c.733G>A	ENSP00000435349.2:p.Gly245Ser
ENST00000529957.6:n.707G>A
ENST00000683366.1:c.*381G>A	ENSP00000507283.1:n.*381G>A
ENST00000683887.1:c.697G>A	ENSP00000506886.1:p.Gly233Ser
ENST00000684100.1:n.643G>A
ENST00000684126.1:n.783G>A
ENST00000684688.1:n.1274G>A
ENST00000204679.9:c.649G>A MANE Select	ENSP00000204679.4:p.Gly217Ser
ENST00000204679.8:c.649G>A	ENSP00000204679.4:p.Gly217Ser
ENST00000527076.1:n.1872G>A
ENST00000527168.5:n.816G>A
ENST00000529957.5:n.748G>A
NM_032520.4:c.649G>A	NP_115909.1:p.Gly217Ser
XM_017023782.1:c.697G>A	XP_016879271.1:p.Gly233Ser
XM_017023783.1:c.289G>A	XP_016879272.1:p.Gly97Ser
NM_032520.5:c.649G>A MANE Select	NP_115909.1:p.Gly217Ser