Canonical Allele Identifier: CA383467132
Gene: KCNA5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045895T>A , CM000674.2:g.5045895T>A GRCh38
NC_000012.11:g.5155061T>A , CM000674.1:g.5155061T>A GRCh37
NC_000012.10:g.5025322T>A NCBI36
NG_012198.1:g.6977T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1748T>A MANE Select ENSP00000252321.3:p.Leu583Gln
ENST00000252321.4:c.1748T>A ENSP00000252321.3:p.Leu583Gln
NM_002234.3:c.1748T>A NP_002225.2:p.Leu583Gln
NM_002234.4:c.1748T>A MANE Select NP_002225.2:p.Leu583Gln