Canonical Allele Identifier: CA394188391

Gene: GNPTG

Linked Data

• dbSNP Id: rs2034924724
• gnomAD v3: 16-1362617-G-A
• gnomAD v4: 16-1362617-G-A
• MyVariant Identifiers: chr16:g.1412618G>A (hg19) ; chr16:g.1362617G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362617G>A , CM000678.2:g.1362617G>A	GRCh38
NC_000016.9:g.1412618G>A , CM000678.1:g.1412618G>A	GRCh37
NC_000016.8:g.1352619G>A	NCBI36
NG_016985.1:g.15719G>A
NG_033129.1:g.57088C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.715G>A
ENST00000529110.2:c.700G>A	ENSP00000435349.2:p.Glu234Lys
ENST00000529957.6:n.674G>A
ENST00000683366.1:c.*348G>A	ENSP00000507283.1:n.*348G>A
ENST00000683887.1:c.664G>A	ENSP00000506886.1:p.Glu222Lys
ENST00000684100.1:n.610G>A
ENST00000684126.1:n.750G>A
ENST00000684688.1:n.1241G>A
ENST00000204679.9:c.616G>A MANE Select	ENSP00000204679.4:p.Glu206Lys
ENST00000204679.8:c.616G>A	ENSP00000204679.4:p.Glu206Lys
ENST00000527076.1:n.1839G>A
ENST00000527168.5:n.783G>A
ENST00000529957.5:n.715G>A
NM_032520.4:c.616G>A	NP_115909.1:p.Glu206Lys
XM_017023782.1:c.664G>A	XP_016879271.1:p.Glu222Lys
XM_017023783.1:c.256G>A	XP_016879272.1:p.Glu86Lys
NM_032520.5:c.616G>A MANE Select	NP_115909.1:p.Glu206Lys