Canonical Allele Identifier: CA404744911

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394207C>G (hg19) ; chr19:g.17283398C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283398C>G , CM000681.2:g.17283398C>G	GRCh38
NC_000019.9:g.17394207C>G , CM000681.1:g.17394207C>G	GRCh37
NC_000019.8:g.17255207C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.634C>G MANE Select	ENSP00000384008.3:p.His212Asp
ENST00000404261.9:c.634C>G	ENSP00000384753.6:p.His212Asp
ENST00000594072.6:c.634C>G	ENSP00000468845.4:p.His212Asp
ENST00000651416.1:n.851C>G
ENST00000652132.1:c.601C>G	ENSP00000498416.1:p.His201Asp
ENST00000394458.7:c.796C>G	ENSP00000377971.4:p.His266Asp
ENST00000404085.5:c.*533C>G	ENSP00000384008.2:n.*533C>G
ENST00000404261.8:c.796C>G	ENSP00000384753.5:p.His266Asp
ENST00000594072.5:c.796C>G	ENSP00000468845.3:p.His266Asp
ENST00000596626.1:n.747C>G
ENST00000598347.2:c.636C>G
NM_001278443.1:c.763C>G	NP_001265372.1:p.His255Asp
NM_001278444.1:c.796C>G	NP_001265373.1:p.His266Asp
NM_001278445.1:c.700C>G	NP_001265374.1:p.His234Asp
NM_152363.5:c.796C>G	NP_689576.5:p.His266Asp
NR_103530.1:n.910C>G
NM_001278443.2:c.601C>G	NP_001265372.2:p.His201Asp
NM_001278444.2:c.634C>G	NP_001265373.2:p.His212Asp
NM_001278445.2:c.592C>G	NP_001265374.2:p.His198Asp
NM_152363.6:c.634C>G MANE Select	NP_689576.6:p.His212Asp
NR_103530.2:n.654C>G