Canonical Allele Identifier: CA493026533

Gene: GNPTG

Linked Data

• dbSNP Id: rs1193075366
• gnomAD v2: 16-1412278-G-A
• gnomAD v4: 16-1362277-G-A
• MyVariant Identifiers: chr16:g.1412278G>A (hg19) ; chr16:g.1362277G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362277G>A , CM000678.2:g.1362277G>A	GRCh38
NC_000016.9:g.1412278G>A , CM000678.1:g.1412278G>A	GRCh37
NC_000016.8:g.1352279G>A	NCBI36
NG_016985.1:g.15379G>A
NG_033129.1:g.57428C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.582G>A
ENST00000529110.2:c.567G>A	ENSP00000435349.2:p.Leu189=
ENST00000529957.6:n.541G>A
ENST00000683366.1:c.*215G>A	ENSP00000507283.1:n.*215G>A
ENST00000683887.1:c.531G>A	ENSP00000506886.1:p.Leu177=
ENST00000684100.1:n.477G>A
ENST00000684126.1:n.541G>A
ENST00000684688.1:n.1108G>A
ENST00000204679.9:c.483G>A MANE Select	ENSP00000204679.4:p.Leu161=
ENST00000204679.8:c.483G>A	ENSP00000204679.4:p.Leu161=
ENST00000527076.1:n.1499G>A
ENST00000527168.5:n.519G>A
ENST00000529110.1:c.550G>A
ENST00000529957.5:n.582G>A
NM_032520.4:c.483G>A	NP_115909.1:p.Leu161=
XM_017023782.1:c.531G>A	XP_016879271.1:p.Leu177=
XM_017023783.1:c.123G>A	XP_016879272.1:p.Leu41=
NM_032520.5:c.483G>A MANE Select	NP_115909.1:p.Leu161=