Canonical Allele Identifier: CA7807815

Gene: GNPTG

Linked Data

• dbSNP Id: rs747006851
• ExAC: 16:1412520 G / A
• gnomAD v2: 16-1412520-G-A
• gnomAD v4: 16-1362519-G-A
• MyVariant Identifiers: chr16:g.1412520G>A (hg19) ; chr16:g.1362519G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362519G>A , CM000678.2:g.1362519G>A	GRCh38
NC_000016.9:g.1412520G>A , CM000678.1:g.1412520G>A	GRCh37
NC_000016.8:g.1352521G>A	NCBI36
NG_016985.1:g.15621G>A
NG_033129.1:g.57186C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.693G>A
ENST00000529110.2:c.678G>A	ENSP00000435349.2:p.Glu226=
ENST00000529957.6:n.652G>A
ENST00000683366.1:c.*326G>A	ENSP00000507283.1:n.*326G>A
ENST00000683887.1:c.642G>A	ENSP00000506886.1:p.Glu214=
ENST00000684100.1:n.588G>A
ENST00000684126.1:n.652G>A
ENST00000684688.1:n.1219G>A
ENST00000204679.9:c.594G>A MANE Select	ENSP00000204679.4:p.Glu198=
ENST00000204679.8:c.594G>A	ENSP00000204679.4:p.Glu198=
ENST00000527076.1:n.1741G>A
ENST00000527168.5:n.761G>A
ENST00000529957.5:n.693G>A
NM_032520.4:c.594G>A	NP_115909.1:p.Glu198=
XM_017023782.1:c.642G>A	XP_016879271.1:p.Glu214=
XM_017023783.1:c.234G>A	XP_016879272.1:p.Glu78=
NM_032520.5:c.594G>A MANE Select	NP_115909.1:p.Glu198=