Canonical Allele Identifier: CA506095526

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394080A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283271A>C , CM000681.2:g.17283271A>C	GRCh38
NC_000019.9:g.17394080A>C , CM000681.1:g.17394080A>C	GRCh37
NC_000019.8:g.17255080A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.507A>C MANE Select	ENSP00000384008.3:p.Ala169=
ENST00000404261.9:c.507A>C	ENSP00000384753.6:p.Ala169=
ENST00000594072.6:c.507A>C	ENSP00000468845.4:p.Ala169=
ENST00000651416.1:n.724A>C
ENST00000652132.1:c.474A>C	ENSP00000498416.1:p.Ala158=
ENST00000394458.7:c.669A>C	ENSP00000377971.4:p.Ala223=
ENST00000404085.5:c.*406A>C	ENSP00000384008.2:n.*406A>C
ENST00000404261.8:c.669A>C	ENSP00000384753.5:p.Ala223=
ENST00000594072.5:c.669A>C	ENSP00000468845.3:p.Ala223=
ENST00000596626.1:n.620A>C
ENST00000598347.2:c.509A>C
NM_001278443.1:c.636A>C	NP_001265372.1:p.Ala212=
NM_001278444.1:c.669A>C	NP_001265373.1:p.Ala223=
NM_001278445.1:c.573A>C	NP_001265374.1:p.Ala191=
NM_152363.5:c.669A>C	NP_689576.5:p.Ala223=
NR_103530.1:n.783A>C
NM_001278443.2:c.474A>C	NP_001265372.2:p.Ala158=
NM_001278444.2:c.507A>C	NP_001265373.2:p.Ala169=
NM_001278445.2:c.465A>C	NP_001265374.2:p.Ala155=
NM_152363.6:c.507A>C MANE Select	NP_689576.6:p.Ala169=
NR_103530.2:n.527A>C