Canonical Allele Identifier: CA404744865

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394182T>G (hg19) ; chr19:g.17283373T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283373T>G , CM000681.2:g.17283373T>G	GRCh38
NC_000019.9:g.17394182T>G , CM000681.1:g.17394182T>G	GRCh37
NC_000019.8:g.17255182T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.609T>G MANE Select	ENSP00000384008.3:p.His203Gln
ENST00000404261.9:c.609T>G	ENSP00000384753.6:p.His203Gln
ENST00000594072.6:c.609T>G	ENSP00000468845.4:p.His203Gln
ENST00000651416.1:n.826T>G
ENST00000652132.1:c.576T>G	ENSP00000498416.1:p.His192Gln
ENST00000394458.7:c.771T>G	ENSP00000377971.4:p.His257Gln
ENST00000404085.5:c.*508T>G	ENSP00000384008.2:n.*508T>G
ENST00000404261.8:c.771T>G	ENSP00000384753.5:p.His257Gln
ENST00000594072.5:c.771T>G	ENSP00000468845.3:p.His257Gln
ENST00000596626.1:n.722T>G
ENST00000598347.2:c.611T>G
NM_001278443.1:c.738T>G	NP_001265372.1:p.His246Gln
NM_001278444.1:c.771T>G	NP_001265373.1:p.His257Gln
NM_001278445.1:c.675T>G	NP_001265374.1:p.His225Gln
NM_152363.5:c.771T>G	NP_689576.5:p.His257Gln
NR_103530.1:n.885T>G
NM_001278443.2:c.576T>G	NP_001265372.2:p.His192Gln
NM_001278444.2:c.609T>G	NP_001265373.2:p.His203Gln
NM_001278445.2:c.567T>G	NP_001265374.2:p.His189Gln
NM_152363.6:c.609T>G MANE Select	NP_689576.6:p.His203Gln
NR_103530.2:n.629T>G