Canonical Allele Identifier: CA383464718
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 3113043
ClinVar RCV Id: RCV004405935

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044725T>C , CM000674.2:g.5044725T>C GRCh38
NC_000012.11:g.5153891T>C , CM000674.1:g.5153891T>C GRCh37
NC_000012.10:g.5024152T>C NCBI36
NG_012198.1:g.5807T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.578T>C MANE Select ENSP00000252321.3:p.Leu193Pro
ENST00000252321.4:c.578T>C ENSP00000252321.3:p.Leu193Pro
NM_002234.3:c.578T>C NP_002225.2:p.Leu193Pro
NM_002234.4:c.578T>C MANE Select NP_002225.2:p.Leu193Pro