Canonical Allele Identifier: CA404744954

Gene: ANKLE1

Linked Data

• dbSNP Id: rs760736500
• gnomAD v4: 19-17283414-C-G
• MyVariant Identifiers: chr19:g.17394223C>G (hg19) ; chr19:g.17283414C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283414C>G , CM000681.2:g.17283414C>G	GRCh38
NC_000019.9:g.17394223C>G , CM000681.1:g.17394223C>G	GRCh37
NC_000019.8:g.17255223C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.650C>G MANE Select	ENSP00000384008.3:p.Ser217Ter
ENST00000404261.9:c.650C>G	ENSP00000384753.6:p.Ser217Ter
ENST00000594072.6:c.650C>G	ENSP00000468845.4:p.Ser217Ter
ENST00000651416.1:n.867C>G
ENST00000652132.1:c.617C>G	ENSP00000498416.1:p.Ser206Ter
ENST00000394458.7:c.812C>G	ENSP00000377971.4:p.Ser271Ter
ENST00000404085.5:c.*549C>G	ENSP00000384008.2:n.*549C>G
ENST00000404261.8:c.812C>G	ENSP00000384753.5:p.Ser271Ter
ENST00000594072.5:c.812C>G	ENSP00000468845.3:p.Ser271Ter
ENST00000596626.1:n.763C>G
ENST00000598347.2:c.652C>G
NM_001278443.1:c.779C>G	NP_001265372.1:p.Ser260Ter
NM_001278444.1:c.812C>G	NP_001265373.1:p.Ser271Ter
NM_001278445.1:c.716C>G	NP_001265374.1:p.Ser239Ter
NM_152363.5:c.812C>G	NP_689576.5:p.Ser271Ter
NR_103530.1:n.926C>G
NM_001278443.2:c.617C>G	NP_001265372.2:p.Ser206Ter
NM_001278444.2:c.650C>G	NP_001265373.2:p.Ser217Ter
NM_001278445.2:c.608C>G	NP_001265374.2:p.Ser203Ter
NM_152363.6:c.650C>G MANE Select	NP_689576.6:p.Ser217Ter
NR_103530.2:n.670C>G