Canonical Allele Identifier: CA2325780478

Gene: ANKLE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283331A= , CM000681.2:g.17283331A=	GRCh38
NC_000019.9:g.17394140A= , CM000681.1:g.17394140A=	GRCh37
NC_000019.8:g.17255140A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.567A= MANE Select	ENSP00000384008.3:p.Gly189=
ENST00000404261.9:c.567A=	ENSP00000384753.6:p.Gly189=
ENST00000594072.6:c.567A=	ENSP00000468845.4:p.Gly189=
ENST00000651416.1:n.784A=
ENST00000652132.1:c.534A=	ENSP00000498416.1:p.Gly178=
ENST00000394458.7:c.729A=	ENSP00000377971.4:p.Gly243=
ENST00000404085.5:c.*466A=	ENSP00000384008.2:n.*466A=
ENST00000404261.8:c.729A=	ENSP00000384753.5:p.Gly243=
ENST00000594072.5:c.729A=	ENSP00000468845.3:p.Gly243=
ENST00000596626.1:n.680A=
ENST00000598347.2:c.569A=
NM_001278443.1:c.696A=	NP_001265372.1:p.Gly232=
NM_001278444.1:c.729A=	NP_001265373.1:p.Gly243=
NM_001278445.1:c.633A=	NP_001265374.1:p.Gly211=
NM_152363.5:c.729A=	NP_689576.5:p.Gly243=
NR_103530.1:n.843A=
NM_001278443.2:c.534A=	NP_001265372.2:p.Gly178=
NM_001278444.2:c.567A=	NP_001265373.2:p.Gly189=
NM_001278445.2:c.525A=	NP_001265374.2:p.Gly175=
NM_152363.6:c.567A= MANE Select	NP_689576.6:p.Gly189=
NR_103530.2:n.587A=