Canonical Allele Identifier: CA506095623
Gene: ANKLE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.17394233T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17283424T>C , CM000681.2:g.17283424T>C GRCh38
NC_000019.9:g.17394233T>C , CM000681.1:g.17394233T>C GRCh37
NC_000019.8:g.17255233T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000404085.7:c.660T>C MANE Select ENSP00000384008.3:p.Ser220=
ENST00000404261.9:c.660T>C ENSP00000384753.6:p.Ser220=
ENST00000594072.6:c.660T>C ENSP00000468845.4:p.Ser220=
ENST00000651416.1:n.877T>C
ENST00000652132.1:c.627T>C ENSP00000498416.1:p.Ser209=
ENST00000394458.7:c.822T>C ENSP00000377971.4:p.Ser274=
ENST00000404085.5:c.*559T>C ENSP00000384008.2:n.*559T>C
ENST00000404261.8:c.822T>C ENSP00000384753.5:p.Ser274=
ENST00000594072.5:c.822T>C ENSP00000468845.3:p.Ser274=
ENST00000596626.1:n.773T>C
ENST00000598347.2:c.662T>C
NM_001278443.1:c.789T>C NP_001265372.1:p.Ser263=
NM_001278444.1:c.822T>C NP_001265373.1:p.Ser274=
NM_001278445.1:c.726T>C NP_001265374.1:p.Ser242=
NM_152363.5:c.822T>C NP_689576.5:p.Ser274=
NR_103530.1:n.936T>C
NM_001278443.2:c.627T>C NP_001265372.2:p.Ser209=
NM_001278444.2:c.660T>C NP_001265373.2:p.Ser220=
NM_001278445.2:c.618T>C NP_001265374.2:p.Ser206=
NM_152363.6:c.660T>C MANE Select NP_689576.6:p.Ser220=
NR_103530.2:n.680T>C