Canonical Allele Identifier: CA7807943

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 737991
• ClinVar RCV Id: RCV000913833 ; RCV001832060
• dbSNP Id: rs762958864
• ExAC: 16:1412849 G / A
• gnomAD v2: 16-1412849-G-A
• gnomAD v3: 16-1362848-G-A
• gnomAD v4: 16-1362848-G-A
• MyVariant Identifiers: chr16:g.1412849G>A (hg19) ; chr16:g.1362848G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362848G>A , CM000678.2:g.1362848G>A	GRCh38
NC_000016.9:g.1412849G>A , CM000678.1:g.1412849G>A	GRCh37
NC_000016.8:g.1352850G>A	NCBI36
NG_016985.1:g.15950G>A
NG_033129.1:g.56857C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.864G>A
ENST00000529110.2:c.849G>A	ENSP00000435349.2:p.Glu283=
ENST00000529957.6:n.823G>A
ENST00000683366.1:c.*497G>A	ENSP00000507283.1:n.*497G>A
ENST00000683887.1:c.813G>A	ENSP00000506886.1:p.Glu271=
ENST00000684100.1:n.759G>A
ENST00000684126.1:n.899G>A
ENST00000684688.1:n.1390G>A
ENST00000204679.9:c.765G>A MANE Select	ENSP00000204679.4:p.Glu255=
ENST00000204679.8:c.765G>A	ENSP00000204679.4:p.Glu255=
ENST00000527076.1:n.1988G>A
ENST00000527168.5:n.932G>A
ENST00000529957.5:n.864G>A
NM_032520.4:c.765G>A	NP_115909.1:p.Glu255=
XM_017023782.1:c.813G>A	XP_016879271.1:p.Glu271=
XM_017023783.1:c.405G>A	XP_016879272.1:p.Glu135=
NM_032520.5:c.765G>A MANE Select	NP_115909.1:p.Glu255=