Canonical Allele Identifier: CA404747294
Gene: ANKLE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17286479A>T , CM000681.2:g.17286479A>T GRCh38
NC_000019.9:g.17397288A>T , CM000681.1:g.17397288A>T GRCh37
NC_000019.8:g.17258288A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000404085.7:c.1775A>T MANE Select ENSP00000384008.3:p.His592Leu
ENST00000404261.9:c.*361A>T ENSP00000384753.6:n.*361A>T
ENST00000594072.6:c.1697A>T ENSP00000468845.4:p.His566Leu
ENST00000651416.1:n.1914A>T
ENST00000652132.1:c.1664A>T ENSP00000498416.1:p.His555Leu
ENST00000394458.7:c.1937A>T ENSP00000377971.4:p.His646Leu
ENST00000404085.5:c.*1596A>T ENSP00000384008.2:n.*1596A>T
ENST00000404261.8:c.*361A>T ENSP00000384753.5:n.*361A>T
ENST00000594072.5:c.1859A>T ENSP00000468845.3:p.His620Leu
ENST00000596626.1:n.1888A>T
ENST00000598347.2:c.1560A>T
NM_001278443.1:c.1826A>T NP_001265372.1:p.His609Leu
NM_001278444.1:c.1720A>T NP_001265373.1:p.Thr574Ser
NM_001278445.1:c.1763A>T NP_001265374.1:p.His588Leu
NM_152363.5:c.1937A>T NP_689576.5:p.His646Leu
NR_103530.1:n.1795A>T
NM_001278443.2:c.1664A>T NP_001265372.2:p.His555Leu
NM_001278444.2:c.1558A>T NP_001265373.2:p.Thr520Ser
NM_001278445.2:c.1655A>T NP_001265374.2:p.His552Leu
NM_152363.6:c.1775A>T MANE Select NP_689576.6:p.His592Leu
NR_103530.2:n.1539A>T