Canonical Allele Identifier: CA404744935

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394216T>C (hg19) ; chr19:g.17283407T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283407T>C , CM000681.2:g.17283407T>C	GRCh38
NC_000019.9:g.17394216T>C , CM000681.1:g.17394216T>C	GRCh37
NC_000019.8:g.17255216T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.643T>C MANE Select	ENSP00000384008.3:p.Tyr215His
ENST00000404261.9:c.643T>C	ENSP00000384753.6:p.Tyr215His
ENST00000594072.6:c.643T>C	ENSP00000468845.4:p.Tyr215His
ENST00000651416.1:n.860T>C
ENST00000652132.1:c.610T>C	ENSP00000498416.1:p.Tyr204His
ENST00000394458.7:c.805T>C	ENSP00000377971.4:p.Tyr269His
ENST00000404085.5:c.*542T>C	ENSP00000384008.2:n.*542T>C
ENST00000404261.8:c.805T>C	ENSP00000384753.5:p.Tyr269His
ENST00000594072.5:c.805T>C	ENSP00000468845.3:p.Tyr269His
ENST00000596626.1:n.756T>C
ENST00000598347.2:c.645T>C
NM_001278443.1:c.772T>C	NP_001265372.1:p.Tyr258His
NM_001278444.1:c.805T>C	NP_001265373.1:p.Tyr269His
NM_001278445.1:c.709T>C	NP_001265374.1:p.Tyr237His
NM_152363.5:c.805T>C	NP_689576.5:p.Tyr269His
NR_103530.1:n.919T>C
NM_001278443.2:c.610T>C	NP_001265372.2:p.Tyr204His
NM_001278444.2:c.643T>C	NP_001265373.2:p.Tyr215His
NM_001278445.2:c.601T>C	NP_001265374.2:p.Tyr201His
NM_152363.6:c.643T>C MANE Select	NP_689576.6:p.Tyr215His
NR_103530.2:n.663T>C