Canonical Allele Identifier: CA383467182
Gene: KCNA5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045916C>A , CM000674.2:g.5045916C>A GRCh38
NC_000012.11:g.5155082C>A , CM000674.1:g.5155082C>A GRCh37
NC_000012.10:g.5025343C>A NCBI36
NG_012198.1:g.6998C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.1769C>A MANE Select ENSP00000252321.3:p.Ala590Asp
ENST00000252321.4:c.1769C>A ENSP00000252321.3:p.Ala590Asp
NM_002234.3:c.1769C>A NP_002225.2:p.Ala590Asp
NM_002234.4:c.1769C>A MANE Select NP_002225.2:p.Ala590Asp