Canonical Allele Identifier: CA404744567

Gene: ANKLE1

Linked Data

• dbSNP Id: rs2073994045
• gnomAD v3: 19-17283230-G-A
• gnomAD v4: 19-17283230-G-A
• MyVariant Identifiers: chr19:g.17394039G>A (hg19) ; chr19:g.17283230G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283230G>A , CM000681.2:g.17283230G>A	GRCh38
NC_000019.9:g.17394039G>A , CM000681.1:g.17394039G>A	GRCh37
NC_000019.8:g.17255039G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.466G>A MANE Select	ENSP00000384008.3:p.Gly156Ser
ENST00000404261.9:c.466G>A	ENSP00000384753.6:p.Gly156Ser
ENST00000594072.6:c.466G>A	ENSP00000468845.4:p.Gly156Ser
ENST00000651416.1:n.683G>A
ENST00000652132.1:c.433G>A	ENSP00000498416.1:p.Gly145Ser
ENST00000394458.7:c.628G>A	ENSP00000377971.4:p.Gly210Ser
ENST00000404085.5:c.*365G>A	ENSP00000384008.2:n.*365G>A
ENST00000404261.8:c.628G>A	ENSP00000384753.5:p.Gly210Ser
ENST00000594072.5:c.628G>A	ENSP00000468845.3:p.Gly210Ser
ENST00000596626.1:n.579G>A
ENST00000598347.2:c.468G>A
NM_001278443.1:c.595G>A	NP_001265372.1:p.Gly199Ser
NM_001278444.1:c.628G>A	NP_001265373.1:p.Gly210Ser
NM_001278445.1:c.532G>A	NP_001265374.1:p.Gly178Ser
NM_152363.5:c.628G>A	NP_689576.5:p.Gly210Ser
NR_103530.1:n.742G>A
NM_001278443.2:c.433G>A	NP_001265372.2:p.Gly145Ser
NM_001278444.2:c.466G>A	NP_001265373.2:p.Gly156Ser
NM_001278445.2:c.424G>A	NP_001265374.2:p.Gly142Ser
NM_152363.6:c.466G>A MANE Select	NP_689576.6:p.Gly156Ser
NR_103530.2:n.486G>A