Canonical Allele Identifier: CA383465169
Gene: KCNA5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044940A>T , CM000674.2:g.5044940A>T GRCh38
NC_000012.11:g.5154106A>T , CM000674.1:g.5154106A>T GRCh37
NC_000012.10:g.5024367A>T NCBI36
NG_012198.1:g.6022A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.793A>T MANE Select ENSP00000252321.3:p.Ile265Phe
ENST00000252321.4:c.793A>T ENSP00000252321.3:p.Ile265Phe
NM_002234.3:c.793A>T NP_002225.2:p.Ile265Phe
NM_002234.4:c.793A>T MANE Select NP_002225.2:p.Ile265Phe