Canonical Allele Identifier: CA394188719

Gene: GNPTG

Linked Data

• dbSNP Id: rs1596616334
• gnomAD v4: 16-1362852-A-G
• MyVariant Identifiers: chr16:g.1412853A>G (hg19) ; chr16:g.1362852A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362852A>G , CM000678.2:g.1362852A>G	GRCh38
NC_000016.9:g.1412853A>G , CM000678.1:g.1412853A>G	GRCh37
NC_000016.8:g.1352854A>G	NCBI36
NG_016985.1:g.15954A>G
NG_033129.1:g.56853T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.868A>G
ENST00000529110.2:c.853A>G	ENSP00000435349.2:p.Lys285Glu
ENST00000529957.6:n.827A>G
ENST00000683366.1:c.*501A>G	ENSP00000507283.1:n.*501A>G
ENST00000683887.1:c.817A>G	ENSP00000506886.1:p.Lys273Glu
ENST00000684100.1:n.763A>G
ENST00000684126.1:n.903A>G
ENST00000684688.1:n.1394A>G
ENST00000204679.9:c.769A>G MANE Select	ENSP00000204679.4:p.Lys257Glu
ENST00000204679.8:c.769A>G	ENSP00000204679.4:p.Lys257Glu
ENST00000527076.1:n.1992A>G
ENST00000527168.5:n.936A>G
ENST00000529957.5:n.868A>G
NM_032520.4:c.769A>G	NP_115909.1:p.Lys257Glu
XM_017023782.1:c.817A>G	XP_016879271.1:p.Lys273Glu
XM_017023783.1:c.409A>G	XP_016879272.1:p.Lys137Glu
NM_032520.5:c.769A>G MANE Select	NP_115909.1:p.Lys257Glu