Canonical Allele Identifier: CA404744710

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394106A>T (hg19) ; chr19:g.17283297A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283297A>T , CM000681.2:g.17283297A>T	GRCh38
NC_000019.9:g.17394106A>T , CM000681.1:g.17394106A>T	GRCh37
NC_000019.8:g.17255106A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.533A>T MANE Select	ENSP00000384008.3:p.Asp178Val
ENST00000404261.9:c.533A>T	ENSP00000384753.6:p.Asp178Val
ENST00000594072.6:c.533A>T	ENSP00000468845.4:p.Asp178Val
ENST00000651416.1:n.750A>T
ENST00000652132.1:c.500A>T	ENSP00000498416.1:p.Asp167Val
ENST00000394458.7:c.695A>T	ENSP00000377971.4:p.Asp232Val
ENST00000404085.5:c.*432A>T	ENSP00000384008.2:n.*432A>T
ENST00000404261.8:c.695A>T	ENSP00000384753.5:p.Asp232Val
ENST00000594072.5:c.695A>T	ENSP00000468845.3:p.Asp232Val
ENST00000596626.1:n.646A>T
ENST00000598347.2:c.535A>T
NM_001278443.1:c.662A>T	NP_001265372.1:p.Asp221Val
NM_001278444.1:c.695A>T	NP_001265373.1:p.Asp232Val
NM_001278445.1:c.599A>T	NP_001265374.1:p.Asp200Val
NM_152363.5:c.695A>T	NP_689576.5:p.Asp232Val
NR_103530.1:n.809A>T
NM_001278443.2:c.500A>T	NP_001265372.2:p.Asp167Val
NM_001278444.2:c.533A>T	NP_001265373.2:p.Asp178Val
NM_001278445.2:c.491A>T	NP_001265374.2:p.Asp164Val
NM_152363.6:c.533A>T MANE Select	NP_689576.6:p.Asp178Val
NR_103530.2:n.553A>T