Canonical Allele Identifier: CA404744598

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394054A>T (hg19) ; chr19:g.17283245A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283245A>T , CM000681.2:g.17283245A>T	GRCh38
NC_000019.9:g.17394054A>T , CM000681.1:g.17394054A>T	GRCh37
NC_000019.8:g.17255054A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.481A>T MANE Select	ENSP00000384008.3:p.Thr161Ser
ENST00000404261.9:c.481A>T	ENSP00000384753.6:p.Thr161Ser
ENST00000594072.6:c.481A>T	ENSP00000468845.4:p.Thr161Ser
ENST00000651416.1:n.698A>T
ENST00000652132.1:c.448A>T	ENSP00000498416.1:p.Thr150Ser
ENST00000394458.7:c.643A>T	ENSP00000377971.4:p.Thr215Ser
ENST00000404085.5:c.*380A>T	ENSP00000384008.2:n.*380A>T
ENST00000404261.8:c.643A>T	ENSP00000384753.5:p.Thr215Ser
ENST00000594072.5:c.643A>T	ENSP00000468845.3:p.Thr215Ser
ENST00000596626.1:n.594A>T
ENST00000598347.2:c.483A>T
NM_001278443.1:c.610A>T	NP_001265372.1:p.Thr204Ser
NM_001278444.1:c.643A>T	NP_001265373.1:p.Thr215Ser
NM_001278445.1:c.547A>T	NP_001265374.1:p.Thr183Ser
NM_152363.5:c.643A>T	NP_689576.5:p.Thr215Ser
NR_103530.1:n.757A>T
NM_001278443.2:c.448A>T	NP_001265372.2:p.Thr150Ser
NM_001278444.2:c.481A>T	NP_001265373.2:p.Thr161Ser
NM_001278445.2:c.439A>T	NP_001265374.2:p.Thr147Ser
NM_152363.6:c.481A>T MANE Select	NP_689576.6:p.Thr161Ser
NR_103530.2:n.501A>T