Canonical Allele Identifier: CA506095549

Gene: ANKLE1

Linked Data

• gnomAD v4: 19-17283001-C-T
• MyVariant Identifiers: chr19:g.17393810C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283001C>T , CM000681.2:g.17283001C>T	GRCh38
NC_000019.9:g.17393810C>T , CM000681.1:g.17393810C>T	GRCh37
NC_000019.8:g.17254810C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.459C>T MANE Select	ENSP00000384008.3:p.Gly153=
ENST00000404261.9:c.459C>T	ENSP00000384753.6:p.Gly153=
ENST00000594072.6:c.459C>T	ENSP00000468845.4:p.Gly153=
ENST00000651416.1:n.676C>T
ENST00000652132.1:c.426C>T	ENSP00000498416.1:p.Gly142=
ENST00000394458.7:c.621C>T	ENSP00000377971.4:p.Gly207=
ENST00000404085.5:c.*358C>T	ENSP00000384008.2:n.*358C>T
ENST00000404261.8:c.621C>T	ENSP00000384753.5:p.Gly207=
ENST00000594072.5:c.621C>T	ENSP00000468845.3:p.Gly207=
ENST00000596099.1:n.360C>T
ENST00000596626.1:n.572C>T
ENST00000596834.1:n.507C>T
ENST00000598347.2:c.461C>T
NM_001278443.1:c.588C>T	NP_001265372.1:p.Gly196=
NM_001278444.1:c.621C>T	NP_001265373.1:p.Gly207=
NM_001278445.1:c.525C>T	NP_001265374.1:p.Gly175=
NM_152363.5:c.621C>T	NP_689576.5:p.Gly207=
NR_103530.1:n.735C>T
NM_001278443.2:c.426C>T	NP_001265372.2:p.Gly142=
NM_001278444.2:c.459C>T	NP_001265373.2:p.Gly153=
NM_001278445.2:c.417C>T	NP_001265374.2:p.Gly139=
NM_152363.6:c.459C>T MANE Select	NP_689576.6:p.Gly153=
NR_103530.2:n.479C>T