Canonical Allele Identifier: CA7807869

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 3004427
• ClinVar RCV Id: RCV003866066
• dbSNP Id: rs201844106
• ExAC: 16:1412653 C / G
• gnomAD v2: 16-1412653-C-G
• gnomAD v4: 16-1362652-C-G
• MyVariant Identifiers: chr16:g.1412653C>G (hg19) ; chr16:g.1362652C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362652C>G , CM000678.2:g.1362652C>G	GRCh38
NC_000016.9:g.1412653C>G , CM000678.1:g.1412653C>G	GRCh37
NC_000016.8:g.1352654C>G	NCBI36
NG_016985.1:g.15754C>G
NG_033129.1:g.57053G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.750C>G
ENST00000529110.2:c.735C>G	ENSP00000435349.2:p.Gly245=
ENST00000529957.6:n.709C>G
ENST00000683366.1:c.*383C>G	ENSP00000507283.1:n.*383C>G
ENST00000683887.1:c.699C>G	ENSP00000506886.1:p.Gly233=
ENST00000684100.1:n.645C>G
ENST00000684126.1:n.785C>G
ENST00000684688.1:n.1276C>G
ENST00000204679.9:c.651C>G MANE Select	ENSP00000204679.4:p.Gly217=
ENST00000204679.8:c.651C>G	ENSP00000204679.4:p.Gly217=
ENST00000527076.1:n.1874C>G
ENST00000527168.5:n.818C>G
ENST00000529957.5:n.750C>G
NM_032520.4:c.651C>G	NP_115909.1:p.Gly217=
XM_017023782.1:c.699C>G	XP_016879271.1:p.Gly233=
XM_017023783.1:c.291C>G	XP_016879272.1:p.Gly97=
NM_032520.5:c.651C>G MANE Select	NP_115909.1:p.Gly217=