Canonical Allele Identifier: CA404744931

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394214A>C (hg19) ; chr19:g.17283405A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283405A>C , CM000681.2:g.17283405A>C	GRCh38
NC_000019.9:g.17394214A>C , CM000681.1:g.17394214A>C	GRCh37
NC_000019.8:g.17255214A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.641A>C MANE Select	ENSP00000384008.3:p.Asp214Ala
ENST00000404261.9:c.641A>C	ENSP00000384753.6:p.Asp214Ala
ENST00000594072.6:c.641A>C	ENSP00000468845.4:p.Asp214Ala
ENST00000651416.1:n.858A>C
ENST00000652132.1:c.608A>C	ENSP00000498416.1:p.Asp203Ala
ENST00000394458.7:c.803A>C	ENSP00000377971.4:p.Asp268Ala
ENST00000404085.5:c.*540A>C	ENSP00000384008.2:n.*540A>C
ENST00000404261.8:c.803A>C	ENSP00000384753.5:p.Asp268Ala
ENST00000594072.5:c.803A>C	ENSP00000468845.3:p.Asp268Ala
ENST00000596626.1:n.754A>C
ENST00000598347.2:c.643A>C
NM_001278443.1:c.770A>C	NP_001265372.1:p.Asp257Ala
NM_001278444.1:c.803A>C	NP_001265373.1:p.Asp268Ala
NM_001278445.1:c.707A>C	NP_001265374.1:p.Asp236Ala
NM_152363.5:c.803A>C	NP_689576.5:p.Asp268Ala
NR_103530.1:n.917A>C
NM_001278443.2:c.608A>C	NP_001265372.2:p.Asp203Ala
NM_001278444.2:c.641A>C	NP_001265373.2:p.Asp214Ala
NM_001278445.2:c.599A>C	NP_001265374.2:p.Asp200Ala
NM_152363.6:c.641A>C MANE Select	NP_689576.6:p.Asp214Ala
NR_103530.2:n.661A>C