Canonical Allele Identifier: CA404744755

Gene: ANKLE1

Linked Data

• gnomAD v4: 19-17283318-A-T
• MyVariant Identifiers: chr19:g.17394127A>T (hg19) ; chr19:g.17283318A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283318A>T , CM000681.2:g.17283318A>T	GRCh38
NC_000019.9:g.17394127A>T , CM000681.1:g.17394127A>T	GRCh37
NC_000019.8:g.17255127A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.554A>T MANE Select	ENSP00000384008.3:p.Glu185Val
ENST00000404261.9:c.554A>T	ENSP00000384753.6:p.Glu185Val
ENST00000594072.6:c.554A>T	ENSP00000468845.4:p.Glu185Val
ENST00000651416.1:n.771A>T
ENST00000652132.1:c.521A>T	ENSP00000498416.1:p.Glu174Val
ENST00000394458.7:c.716A>T	ENSP00000377971.4:p.Glu239Val
ENST00000404085.5:c.*453A>T	ENSP00000384008.2:n.*453A>T
ENST00000404261.8:c.716A>T	ENSP00000384753.5:p.Glu239Val
ENST00000594072.5:c.716A>T	ENSP00000468845.3:p.Glu239Val
ENST00000596626.1:n.667A>T
ENST00000598347.2:c.556A>T
NM_001278443.1:c.683A>T	NP_001265372.1:p.Glu228Val
NM_001278444.1:c.716A>T	NP_001265373.1:p.Glu239Val
NM_001278445.1:c.620A>T	NP_001265374.1:p.Glu207Val
NM_152363.5:c.716A>T	NP_689576.5:p.Glu239Val
NR_103530.1:n.830A>T
NM_001278443.2:c.521A>T	NP_001265372.2:p.Glu174Val
NM_001278444.2:c.554A>T	NP_001265373.2:p.Glu185Val
NM_001278445.2:c.512A>T	NP_001265374.2:p.Glu171Val
NM_152363.6:c.554A>T MANE Select	NP_689576.6:p.Glu185Val
NR_103530.2:n.574A>T