Canonical Allele Identifier: CA506095669

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394185G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283376G>T , CM000681.2:g.17283376G>T	GRCh38
NC_000019.9:g.17394185G>T , CM000681.1:g.17394185G>T	GRCh37
NC_000019.8:g.17255185G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.612G>T MANE Select	ENSP00000384008.3:p.Gly204=
ENST00000404261.9:c.612G>T	ENSP00000384753.6:p.Gly204=
ENST00000594072.6:c.612G>T	ENSP00000468845.4:p.Gly204=
ENST00000651416.1:n.829G>T
ENST00000652132.1:c.579G>T	ENSP00000498416.1:p.Gly193=
ENST00000394458.7:c.774G>T	ENSP00000377971.4:p.Gly258=
ENST00000404085.5:c.*511G>T	ENSP00000384008.2:n.*511G>T
ENST00000404261.8:c.774G>T	ENSP00000384753.5:p.Gly258=
ENST00000594072.5:c.774G>T	ENSP00000468845.3:p.Gly258=
ENST00000596626.1:n.725G>T
ENST00000598347.2:c.614G>T
NM_001278443.1:c.741G>T	NP_001265372.1:p.Gly247=
NM_001278444.1:c.774G>T	NP_001265373.1:p.Gly258=
NM_001278445.1:c.678G>T	NP_001265374.1:p.Gly226=
NM_152363.5:c.774G>T	NP_689576.5:p.Gly258=
NR_103530.1:n.888G>T
NM_001278443.2:c.579G>T	NP_001265372.2:p.Gly193=
NM_001278444.2:c.612G>T	NP_001265373.2:p.Gly204=
NM_001278445.2:c.570G>T	NP_001265374.2:p.Gly190=
NM_152363.6:c.612G>T MANE Select	NP_689576.6:p.Gly204=
NR_103530.2:n.632G>T