Canonical Allele Identifier: CA7807865

Gene: GNPTG

Linked Data

• dbSNP Id: rs771470862
• ExAC: 16:1412646 A / G
• gnomAD v2: 16-1412646-A-G
• gnomAD v4: 16-1362645-A-G
• MyVariant Identifiers: chr16:g.1412646A>G (hg19) ; chr16:g.1362645A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362645A>G , CM000678.2:g.1362645A>G	GRCh38
NC_000016.9:g.1412646A>G , CM000678.1:g.1412646A>G	GRCh37
NC_000016.8:g.1352647A>G	NCBI36
NG_016985.1:g.15747A>G
NG_033129.1:g.57060T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.743A>G
ENST00000529110.2:c.728A>G	ENSP00000435349.2:p.Asp243Gly
ENST00000529957.6:n.702A>G
ENST00000683366.1:c.*376A>G	ENSP00000507283.1:n.*376A>G
ENST00000683887.1:c.692A>G	ENSP00000506886.1:p.Asp231Gly
ENST00000684100.1:n.638A>G
ENST00000684126.1:n.778A>G
ENST00000684688.1:n.1269A>G
ENST00000204679.9:c.644A>G MANE Select	ENSP00000204679.4:p.Asp215Gly
ENST00000204679.8:c.644A>G	ENSP00000204679.4:p.Asp215Gly
ENST00000527076.1:n.1867A>G
ENST00000527168.5:n.811A>G
ENST00000529957.5:n.743A>G
NM_032520.4:c.644A>G	NP_115909.1:p.Asp215Gly
XM_017023782.1:c.692A>G	XP_016879271.1:p.Asp231Gly
XM_017023783.1:c.284A>G	XP_016879272.1:p.Asp95Gly
NM_032520.5:c.644A>G MANE Select	NP_115909.1:p.Asp215Gly