Canonical Allele Identifier: CA306085999

Gene: ANKLE1

Linked Data

• dbSNP Id: rs1055062258
• gnomAD v2: 19-17393981-A-T
• gnomAD v3: 19-17283172-A-T
• gnomAD v4: 19-17283172-A-T
• MyVariant Identifiers: chr19:g.17393981A>T (hg19) ; chr19:g.17283172A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283172A>T , CM000681.2:g.17283172A>T	GRCh38
NC_000019.9:g.17393981A>T , CM000681.1:g.17393981A>T	GRCh37
NC_000019.8:g.17254981A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.461-53A>T MANE Select	ENSP00000384008.3:n.461-53A>T
ENST00000404261.9:c.461-53A>T	ENSP00000384753.6:n.461-53A>T
ENST00000594072.6:c.461-53A>T	ENSP00000468845.4:n.461-53A>T
ENST00000651416.1:n.678-53A>T
ENST00000652132.1:c.428-53A>T	ENSP00000498416.1:n.428-53A>T
ENST00000394458.7:c.623-53A>T	ENSP00000377971.4:n.623-53A>T
ENST00000404085.5:c.*360-53A>T	ENSP00000384008.2:n.*360-53A>T
ENST00000404261.8:c.623-53A>T	ENSP00000384753.5:n.623-53A>T
ENST00000594072.5:c.623-53A>T	ENSP00000468845.3:n.623-53A>T
ENST00000596099.1:n.531A>T
ENST00000596626.1:n.574-53A>T
ENST00000598347.2:c.463-53A>T
NM_001278443.1:c.590-53A>T	NP_001265372.1:n.590-53A>T
NM_001278444.1:c.623-53A>T	NP_001265373.1:n.623-53A>T
NM_001278445.1:c.527-53A>T	NP_001265374.1:n.527-53A>T
NM_152363.5:c.623-53A>T	NP_689576.5:n.623-53A>T
NR_103530.1:n.737-53A>T
NM_001278443.2:c.428-53A>T	NP_001265372.2:n.428-53A>T
NM_001278444.2:c.461-53A>T	NP_001265373.2:n.461-53A>T
NM_001278445.2:c.419-53A>T	NP_001265374.2:n.419-53A>T
NM_152363.6:c.461-53A>T MANE Select	NP_689576.6:n.461-53A>T
NR_103530.2:n.481-53A>T