Canonical Allele Identifier: CA404744626

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394069G>A (hg19) ; chr19:g.17283260G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283260G>A , CM000681.2:g.17283260G>A	GRCh38
NC_000019.9:g.17394069G>A , CM000681.1:g.17394069G>A	GRCh37
NC_000019.8:g.17255069G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.496G>A MANE Select	ENSP00000384008.3:p.Asp166Asn
ENST00000404261.9:c.496G>A	ENSP00000384753.6:p.Asp166Asn
ENST00000594072.6:c.496G>A	ENSP00000468845.4:p.Asp166Asn
ENST00000651416.1:n.713G>A
ENST00000652132.1:c.463G>A	ENSP00000498416.1:p.Asp155Asn
ENST00000394458.7:c.658G>A	ENSP00000377971.4:p.Asp220Asn
ENST00000404085.5:c.*395G>A	ENSP00000384008.2:n.*395G>A
ENST00000404261.8:c.658G>A	ENSP00000384753.5:p.Asp220Asn
ENST00000594072.5:c.658G>A	ENSP00000468845.3:p.Asp220Asn
ENST00000596626.1:n.609G>A
ENST00000598347.2:c.498G>A
NM_001278443.1:c.625G>A	NP_001265372.1:p.Asp209Asn
NM_001278444.1:c.658G>A	NP_001265373.1:p.Asp220Asn
NM_001278445.1:c.562G>A	NP_001265374.1:p.Asp188Asn
NM_152363.5:c.658G>A	NP_689576.5:p.Asp220Asn
NR_103530.1:n.772G>A
NM_001278443.2:c.463G>A	NP_001265372.2:p.Asp155Asn
NM_001278444.2:c.496G>A	NP_001265373.2:p.Asp166Asn
NM_001278445.2:c.454G>A	NP_001265374.2:p.Asp152Asn
NM_152363.6:c.496G>A MANE Select	NP_689576.6:p.Asp166Asn
NR_103530.2:n.516G>A