Canonical Allele Identifier: CA9291137

Gene: ANKLE1

Linked Data

• dbSNP Id: rs374443702
• ExAC: 19:17394139 G / A
• gnomAD v2: 19-17394139-G-A
• gnomAD v3: 19-17283330-G-A
• gnomAD v4: 19-17283330-G-A
• MyVariant Identifiers: chr19:g.17394139G>A (hg19) ; chr19:g.17283330G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283330G>A , CM000681.2:g.17283330G>A	GRCh38
NC_000019.9:g.17394139G>A , CM000681.1:g.17394139G>A	GRCh37
NC_000019.8:g.17255139G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.566G>A MANE Select	ENSP00000384008.3:p.Gly189Glu
ENST00000404261.9:c.566G>A	ENSP00000384753.6:p.Gly189Glu
ENST00000594072.6:c.566G>A	ENSP00000468845.4:p.Gly189Glu
ENST00000651416.1:n.783G>A
ENST00000652132.1:c.533G>A	ENSP00000498416.1:p.Gly178Glu
ENST00000394458.7:c.728G>A	ENSP00000377971.4:p.Gly243Glu
ENST00000404085.5:c.*465G>A	ENSP00000384008.2:n.*465G>A
ENST00000404261.8:c.728G>A	ENSP00000384753.5:p.Gly243Glu
ENST00000594072.5:c.728G>A	ENSP00000468845.3:p.Gly243Glu
ENST00000596626.1:n.679G>A
ENST00000598347.2:c.568G>A
NM_001278443.1:c.695G>A	NP_001265372.1:p.Gly232Glu
NM_001278444.1:c.728G>A	NP_001265373.1:p.Gly243Glu
NM_001278445.1:c.632G>A	NP_001265374.1:p.Gly211Glu
NM_152363.5:c.728G>A	NP_689576.5:p.Gly243Glu
NR_103530.1:n.842G>A
NM_001278443.2:c.533G>A	NP_001265372.2:p.Gly178Glu
NM_001278444.2:c.566G>A	NP_001265373.2:p.Gly189Glu
NM_001278445.2:c.524G>A	NP_001265374.2:p.Gly175Glu
NM_152363.6:c.566G>A MANE Select	NP_689576.6:p.Gly189Glu
NR_103530.2:n.586G>A