Canonical Allele Identifier: CA404744548

Gene: ANKLE1

Linked Data

• gnomAD v4: 19-17283002-A-G
• MyVariant Identifiers: chr19:g.17393811A>G (hg19) ; chr19:g.17283002A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283002A>G , CM000681.2:g.17283002A>G	GRCh38
NC_000019.9:g.17393811A>G , CM000681.1:g.17393811A>G	GRCh37
NC_000019.8:g.17254811A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.460A>G MANE Select	ENSP00000384008.3:p.Thr154Ala
ENST00000404261.9:c.460A>G	ENSP00000384753.6:p.Thr154Ala
ENST00000594072.6:c.460A>G	ENSP00000468845.4:p.Thr154Ala
ENST00000651416.1:n.677A>G
ENST00000652132.1:c.427A>G	ENSP00000498416.1:p.Thr143Ala
ENST00000394458.7:c.622A>G	ENSP00000377971.4:p.Thr208Ala
ENST00000404085.5:c.*359A>G	ENSP00000384008.2:n.*359A>G
ENST00000404261.8:c.622A>G	ENSP00000384753.5:p.Thr208Ala
ENST00000594072.5:c.622A>G	ENSP00000468845.3:p.Thr208Ala
ENST00000596099.1:n.361A>G
ENST00000596626.1:n.573A>G
ENST00000596834.1:n.508A>G
ENST00000598347.2:c.462A>G
NM_001278443.1:c.589A>G	NP_001265372.1:p.Thr197Ala
NM_001278444.1:c.622A>G	NP_001265373.1:p.Thr208Ala
NM_001278445.1:c.526A>G	NP_001265374.1:p.Thr176Ala
NM_152363.5:c.622A>G	NP_689576.5:p.Thr208Ala
NR_103530.1:n.736A>G
NM_001278443.2:c.427A>G	NP_001265372.2:p.Thr143Ala
NM_001278444.2:c.460A>G	NP_001265373.2:p.Thr154Ala
NM_001278445.2:c.418A>G	NP_001265374.2:p.Thr140Ala
NM_152363.6:c.460A>G MANE Select	NP_689576.6:p.Thr154Ala
NR_103530.2:n.480A>G