Canonical Allele Identifier: CA7807727

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 790163
• ClinVar RCV Id: RCV000972902 ; RCV001278360
• dbSNP Id: rs377651982
• ExAC: 16:1412281 G / A
• gnomAD v2: 16-1412281-G-A
• gnomAD v3: 16-1362280-G-A
• gnomAD v4: 16-1362280-G-A
• MyVariant Identifiers: chr16:g.1412281G>A (hg19) ; chr16:g.1362280G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362280G>A , CM000678.2:g.1362280G>A	GRCh38
NC_000016.9:g.1412281G>A , CM000678.1:g.1412281G>A	GRCh37
NC_000016.8:g.1352282G>A	NCBI36
NG_016985.1:g.15382G>A
NG_033129.1:g.57425C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.585G>A
ENST00000529110.2:c.570G>A	ENSP00000435349.2:p.Thr190=
ENST00000529957.6:n.544G>A
ENST00000683366.1:c.*218G>A	ENSP00000507283.1:n.*218G>A
ENST00000683887.1:c.534G>A	ENSP00000506886.1:p.Thr178=
ENST00000684100.1:n.480G>A
ENST00000684126.1:n.544G>A
ENST00000684688.1:n.1111G>A
ENST00000204679.9:c.486G>A MANE Select	ENSP00000204679.4:p.Thr162=
ENST00000204679.8:c.486G>A	ENSP00000204679.4:p.Thr162=
ENST00000527076.1:n.1502G>A
ENST00000527168.5:n.522G>A
ENST00000529957.5:n.585G>A
NM_032520.4:c.486G>A	NP_115909.1:p.Thr162=
XM_017023782.1:c.534G>A	XP_016879271.1:p.Thr178=
XM_017023783.1:c.126G>A	XP_016879272.1:p.Thr42=
NM_032520.5:c.486G>A MANE Select	NP_115909.1:p.Thr162=