Canonical Allele Identifier: CA506095592

Gene: ANKLE1

Linked Data

• dbSNP Id: rs1204308848
• gnomAD v3: 19-17283400-C-T
• gnomAD v4: 19-17283400-C-T
• MyVariant Identifiers: chr19:g.17394209C>T (hg19) ; chr19:g.17283400C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283400C>T , CM000681.2:g.17283400C>T	GRCh38
NC_000019.9:g.17394209C>T , CM000681.1:g.17394209C>T	GRCh37
NC_000019.8:g.17255209C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.636C>T MANE Select	ENSP00000384008.3:p.His212=
ENST00000404261.9:c.636C>T	ENSP00000384753.6:p.His212=
ENST00000594072.6:c.636C>T	ENSP00000468845.4:p.His212=
ENST00000651416.1:n.853C>T
ENST00000652132.1:c.603C>T	ENSP00000498416.1:p.His201=
ENST00000394458.7:c.798C>T	ENSP00000377971.4:p.His266=
ENST00000404085.5:c.*535C>T	ENSP00000384008.2:n.*535C>T
ENST00000404261.8:c.798C>T	ENSP00000384753.5:p.His266=
ENST00000594072.5:c.798C>T	ENSP00000468845.3:p.His266=
ENST00000596626.1:n.749C>T
ENST00000598347.2:c.638C>T
NM_001278443.1:c.765C>T	NP_001265372.1:p.His255=
NM_001278444.1:c.798C>T	NP_001265373.1:p.His266=
NM_001278445.1:c.702C>T	NP_001265374.1:p.His234=
NM_152363.5:c.798C>T	NP_689576.5:p.His266=
NR_103530.1:n.912C>T
NM_001278443.2:c.603C>T	NP_001265372.2:p.His201=
NM_001278444.2:c.636C>T	NP_001265373.2:p.His212=
NM_001278445.2:c.594C>T	NP_001265374.2:p.His198=
NM_152363.6:c.636C>T MANE Select	NP_689576.6:p.His212=
NR_103530.2:n.656C>T