Canonical Allele Identifier: CA404744629

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394070A>C (hg19) ; chr19:g.17283261A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283261A>C , CM000681.2:g.17283261A>C	GRCh38
NC_000019.9:g.17394070A>C , CM000681.1:g.17394070A>C	GRCh37
NC_000019.8:g.17255070A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.497A>C MANE Select	ENSP00000384008.3:p.Asp166Ala
ENST00000404261.9:c.497A>C	ENSP00000384753.6:p.Asp166Ala
ENST00000594072.6:c.497A>C	ENSP00000468845.4:p.Asp166Ala
ENST00000651416.1:n.714A>C
ENST00000652132.1:c.464A>C	ENSP00000498416.1:p.Asp155Ala
ENST00000394458.7:c.659A>C	ENSP00000377971.4:p.Asp220Ala
ENST00000404085.5:c.*396A>C	ENSP00000384008.2:n.*396A>C
ENST00000404261.8:c.659A>C	ENSP00000384753.5:p.Asp220Ala
ENST00000594072.5:c.659A>C	ENSP00000468845.3:p.Asp220Ala
ENST00000596626.1:n.610A>C
ENST00000598347.2:c.499A>C
NM_001278443.1:c.626A>C	NP_001265372.1:p.Asp209Ala
NM_001278444.1:c.659A>C	NP_001265373.1:p.Asp220Ala
NM_001278445.1:c.563A>C	NP_001265374.1:p.Asp188Ala
NM_152363.5:c.659A>C	NP_689576.5:p.Asp220Ala
NR_103530.1:n.773A>C
NM_001278443.2:c.464A>C	NP_001265372.2:p.Asp155Ala
NM_001278444.2:c.497A>C	NP_001265373.2:p.Asp166Ala
NM_001278445.2:c.455A>C	NP_001265374.2:p.Asp152Ala
NM_152363.6:c.497A>C MANE Select	NP_689576.6:p.Asp166Ala
NR_103530.2:n.517A>C