Canonical Allele Identifier: CA404744943

Gene: ANKLE1

Linked Data

• dbSNP Id: rs2073996975
• MyVariant Identifiers: chr19:g.17394219A>G (hg19) ; chr19:g.17283410A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283410A>G , CM000681.2:g.17283410A>G	GRCh38
NC_000019.9:g.17394219A>G , CM000681.1:g.17394219A>G	GRCh37
NC_000019.8:g.17255219A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.646A>G MANE Select	ENSP00000384008.3:p.Ser216Gly
ENST00000404261.9:c.646A>G	ENSP00000384753.6:p.Ser216Gly
ENST00000594072.6:c.646A>G	ENSP00000468845.4:p.Ser216Gly
ENST00000651416.1:n.863A>G
ENST00000652132.1:c.613A>G	ENSP00000498416.1:p.Ser205Gly
ENST00000394458.7:c.808A>G	ENSP00000377971.4:p.Ser270Gly
ENST00000404085.5:c.*545A>G	ENSP00000384008.2:n.*545A>G
ENST00000404261.8:c.808A>G	ENSP00000384753.5:p.Ser270Gly
ENST00000594072.5:c.808A>G	ENSP00000468845.3:p.Ser270Gly
ENST00000596626.1:n.759A>G
ENST00000598347.2:c.648A>G
NM_001278443.1:c.775A>G	NP_001265372.1:p.Ser259Gly
NM_001278444.1:c.808A>G	NP_001265373.1:p.Ser270Gly
NM_001278445.1:c.712A>G	NP_001265374.1:p.Ser238Gly
NM_152363.5:c.808A>G	NP_689576.5:p.Ser270Gly
NR_103530.1:n.922A>G
NM_001278443.2:c.613A>G	NP_001265372.2:p.Ser205Gly
NM_001278444.2:c.646A>G	NP_001265373.2:p.Ser216Gly
NM_001278445.2:c.604A>G	NP_001265374.2:p.Ser202Gly
NM_152363.6:c.646A>G MANE Select	NP_689576.6:p.Ser216Gly
NR_103530.2:n.666A>G