Canonical Allele Identifier: CA306085935

Gene: ANKLE1

Linked Data

• dbSNP Id: rs1032093125
• gnomAD v2: 19-17393845-C-T
• gnomAD v4: 19-17283036-C-T
• MyVariant Identifiers: chr19:g.17393845C>T (hg19) ; chr19:g.17283036C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283036C>T , CM000681.2:g.17283036C>T	GRCh38
NC_000019.9:g.17393845C>T , CM000681.1:g.17393845C>T	GRCh37
NC_000019.8:g.17254845C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.460+34C>T MANE Select	ENSP00000384008.3:n.460+34C>T
ENST00000404261.9:c.460+34C>T	ENSP00000384753.6:n.460+34C>T
ENST00000594072.6:c.460+34C>T	ENSP00000468845.4:n.460+34C>T
ENST00000651416.1:n.677+34C>T
ENST00000652132.1:c.427+34C>T	ENSP00000498416.1:n.427+34C>T
ENST00000394458.7:c.622+34C>T	ENSP00000377971.4:n.622+34C>T
ENST00000404085.5:c.*359+34C>T	ENSP00000384008.2:n.*359+34C>T
ENST00000404261.8:c.622+34C>T	ENSP00000384753.5:n.622+34C>T
ENST00000594072.5:c.622+34C>T	ENSP00000468845.3:n.622+34C>T
ENST00000596099.1:n.395C>T
ENST00000596626.1:n.573+34C>T
ENST00000596834.1:n.542C>T
ENST00000598347.2:c.462+34C>T
NM_001278443.1:c.589+34C>T	NP_001265372.1:n.589+34C>T
NM_001278444.1:c.622+34C>T	NP_001265373.1:n.622+34C>T
NM_001278445.1:c.526+34C>T	NP_001265374.1:n.526+34C>T
NM_152363.5:c.622+34C>T	NP_689576.5:n.622+34C>T
NR_103530.1:n.736+34C>T
NM_001278443.2:c.427+34C>T	NP_001265372.2:n.427+34C>T
NM_001278444.2:c.460+34C>T	NP_001265373.2:n.460+34C>T
NM_001278445.2:c.418+34C>T	NP_001265374.2:n.418+34C>T
NM_152363.6:c.460+34C>T MANE Select	NP_689576.6:n.460+34C>T
NR_103530.2:n.480+34C>T