Canonical Allele Identifier: CA506095460

Gene: ANKLE1

Linked Data

• dbSNP Id: rs2073994123
• gnomAD v3: 19-17283241-A-G
• gnomAD v4: 19-17283241-A-G
• MyVariant Identifiers: chr19:g.17394050A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283241A>G , CM000681.2:g.17283241A>G	GRCh38
NC_000019.9:g.17394050A>G , CM000681.1:g.17394050A>G	GRCh37
NC_000019.8:g.17255050A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.477A>G MANE Select	ENSP00000384008.3:p.Gly159=
ENST00000404261.9:c.477A>G	ENSP00000384753.6:p.Gly159=
ENST00000594072.6:c.477A>G	ENSP00000468845.4:p.Gly159=
ENST00000651416.1:n.694A>G
ENST00000652132.1:c.444A>G	ENSP00000498416.1:p.Gly148=
ENST00000394458.7:c.639A>G	ENSP00000377971.4:p.Gly213=
ENST00000404085.5:c.*376A>G	ENSP00000384008.2:n.*376A>G
ENST00000404261.8:c.639A>G	ENSP00000384753.5:p.Gly213=
ENST00000594072.5:c.639A>G	ENSP00000468845.3:p.Gly213=
ENST00000596626.1:n.590A>G
ENST00000598347.2:c.479A>G
NM_001278443.1:c.606A>G	NP_001265372.1:p.Gly202=
NM_001278444.1:c.639A>G	NP_001265373.1:p.Gly213=
NM_001278445.1:c.543A>G	NP_001265374.1:p.Gly181=
NM_152363.5:c.639A>G	NP_689576.5:p.Gly213=
NR_103530.1:n.753A>G
NM_001278443.2:c.444A>G	NP_001265372.2:p.Gly148=
NM_001278444.2:c.477A>G	NP_001265373.2:p.Gly159=
NM_001278445.2:c.435A>G	NP_001265374.2:p.Gly145=
NM_152363.6:c.477A>G MANE Select	NP_689576.6:p.Gly159=
NR_103530.2:n.497A>G