Canonical Allele Identifier: CA383466836
Gene: KCNA5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045748T>A , CM000674.2:g.5045748T>A GRCh38
NC_000012.11:g.5154914T>A , CM000674.1:g.5154914T>A GRCh37
NC_000012.10:g.5025175T>A NCBI36
NG_012198.1:g.6830T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1601T>A MANE Select ENSP00000252321.3:p.Val534Asp
ENST00000252321.4:c.1601T>A ENSP00000252321.3:p.Val534Asp
NM_002234.3:c.1601T>A NP_002225.2:p.Val534Asp
NM_002234.4:c.1601T>A MANE Select NP_002225.2:p.Val534Asp