Canonical Allele Identifier: CA394187215

Gene: GNPTG

Linked Data

• dbSNP Id: rs2034898668
• gnomAD v3: 16-1362054-G-A
• gnomAD v4: 16-1362054-G-A
• MyVariant Identifiers: chr16:g.1412055G>A (hg19) ; chr16:g.1362054G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362054G>A , CM000678.2:g.1362054G>A	GRCh38
NC_000016.9:g.1412055G>A , CM000678.1:g.1412055G>A	GRCh37
NC_000016.8:g.1352056G>A	NCBI36
NG_016985.1:g.15156G>A
NG_033129.1:g.57651C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.433G>A
ENST00000529110.2:c.418G>A	ENSP00000435349.2:p.Glu140Lys
ENST00000529957.6:n.392G>A
ENST00000683366.1:c.*66G>A	ENSP00000507283.1:n.*66G>A
ENST00000683887.1:c.382G>A	ENSP00000506886.1:p.Glu128Lys
ENST00000684100.1:n.328G>A
ENST00000684126.1:n.392G>A
ENST00000684688.1:n.959G>A
ENST00000204679.9:c.334G>A MANE Select	ENSP00000204679.4:p.Glu112Lys
ENST00000204679.8:c.334G>A	ENSP00000204679.4:p.Glu112Lys
ENST00000526820.5:c.*236G>A	ENSP00000434413.1:n.*236G>A
ENST00000527076.1:n.1350G>A
ENST00000527168.5:n.370G>A
ENST00000529110.1:c.401G>A
ENST00000529957.5:n.433G>A
NM_032520.4:c.334G>A	NP_115909.1:p.Glu112Lys
XM_017023782.1:c.382G>A	XP_016879271.1:p.Glu128Lys
XM_017023783.1:c.-27G>A	XP_016879272.1:n.-27G>A
NM_032520.5:c.334G>A MANE Select	NP_115909.1:p.Glu112Lys