Canonical Allele Identifier: CA383464863
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 3113044
ClinVar RCV Id: RCV004405936
dbSNP Id: rs1565465386
gnomAD v4: 12-5044796-G-A
MyVariant Identifiers: chr12:g.5153962G>A (hg19) chr12:g.5044796G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044796G>A , CM000674.2:g.5044796G>A GRCh38
NC_000012.11:g.5153962G>A , CM000674.1:g.5153962G>A GRCh37
NC_000012.10:g.5024223G>A NCBI36
NG_012198.1:g.5878G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.649G>A MANE Select ENSP00000252321.3:p.Glu217Lys
ENST00000252321.4:c.649G>A ENSP00000252321.3:p.Glu217Lys
NM_002234.3:c.649G>A NP_002225.2:p.Glu217Lys
NM_002234.4:c.649G>A MANE Select NP_002225.2:p.Glu217Lys
Search 100 bp 5'
Search 100 bp 3'