Canonical Allele Identifier: CA7807862

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1014868
• ClinVar RCV Id: RCV001313661
• dbSNP Id: rs768377103
• ExAC: 16:1412643 A / G
• gnomAD v2: 16-1412643-A-G
• gnomAD v3: 16-1362642-A-G
• gnomAD v4: 16-1362642-A-G
• MyVariant Identifiers: chr16:g.1412643A>G (hg19) ; chr16:g.1362642A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362642A>G , CM000678.2:g.1362642A>G	GRCh38
NC_000016.9:g.1412643A>G , CM000678.1:g.1412643A>G	GRCh37
NC_000016.8:g.1352644A>G	NCBI36
NG_016985.1:g.15744A>G
NG_033129.1:g.57063T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.740A>G
ENST00000529110.2:c.725A>G	ENSP00000435349.2:p.Glu242Gly
ENST00000529957.6:n.699A>G
ENST00000683366.1:c.*373A>G	ENSP00000507283.1:n.*373A>G
ENST00000683887.1:c.689A>G	ENSP00000506886.1:p.Glu230Gly
ENST00000684100.1:n.635A>G
ENST00000684126.1:n.775A>G
ENST00000684688.1:n.1266A>G
ENST00000204679.9:c.641A>G MANE Select	ENSP00000204679.4:p.Glu214Gly
ENST00000204679.8:c.641A>G	ENSP00000204679.4:p.Glu214Gly
ENST00000527076.1:n.1864A>G
ENST00000527168.5:n.808A>G
ENST00000529957.5:n.740A>G
NM_032520.4:c.641A>G	NP_115909.1:p.Glu214Gly
XM_017023782.1:c.689A>G	XP_016879271.1:p.Glu230Gly
XM_017023783.1:c.281A>G	XP_016879272.1:p.Glu94Gly
NM_032520.5:c.641A>G MANE Select	NP_115909.1:p.Glu214Gly