Canonical Allele Identifier: CA2013431228
Gene: KCNA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045414C= , CM000674.2:g.5045414C= GRCh38
NC_000012.11:g.5154580C= , CM000674.1:g.5154580C= GRCh37
NC_000012.10:g.5024841C= NCBI36
NG_012198.1:g.6496C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1267C= MANE Select ENSP00000252321.3:p.Leu423=
ENST00000252321.4:c.1267C= ENSP00000252321.3:p.Leu423=
NM_002234.3:c.1267C= NP_002225.2:p.Leu423=
NM_002234.4:c.1267C= MANE Select NP_002225.2:p.Leu423=