Canonical Allele Identifier: CA394188458

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1382702
• ClinVar RCV Id: RCV001890485
• dbSNP Id: rs1438050231
• gnomAD v2: 16-1412652-G-A
• MyVariant Identifiers: chr16:g.1412652G>A (hg19) ; chr16:g.1362651G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362651G>A , CM000678.2:g.1362651G>A	GRCh38
NC_000016.9:g.1412652G>A , CM000678.1:g.1412652G>A	GRCh37
NC_000016.8:g.1352653G>A	NCBI36
NG_016985.1:g.15753G>A
NG_033129.1:g.57054C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.749G>A
ENST00000529110.2:c.734G>A	ENSP00000435349.2:p.Gly245Asp
ENST00000529957.6:n.708G>A
ENST00000683366.1:c.*382G>A	ENSP00000507283.1:n.*382G>A
ENST00000683887.1:c.698G>A	ENSP00000506886.1:p.Gly233Asp
ENST00000684100.1:n.644G>A
ENST00000684126.1:n.784G>A
ENST00000684688.1:n.1275G>A
ENST00000204679.9:c.650G>A MANE Select	ENSP00000204679.4:p.Gly217Asp
ENST00000204679.8:c.650G>A	ENSP00000204679.4:p.Gly217Asp
ENST00000527076.1:n.1873G>A
ENST00000527168.5:n.817G>A
ENST00000529957.5:n.749G>A
NM_032520.4:c.650G>A	NP_115909.1:p.Gly217Asp
XM_017023782.1:c.698G>A	XP_016879271.1:p.Gly233Asp
XM_017023783.1:c.290G>A	XP_016879272.1:p.Gly97Asp
NM_032520.5:c.650G>A MANE Select	NP_115909.1:p.Gly217Asp