Canonical Allele Identifier: CA383465261
Gene: KCNA5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044985G>A , CM000674.2:g.5044985G>A GRCh38
NC_000012.11:g.5154151G>A , CM000674.1:g.5154151G>A GRCh37
NC_000012.10:g.5024412G>A NCBI36
NG_012198.1:g.6067G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.838G>A MANE Select ENSP00000252321.3:p.Glu280Lys
ENST00000252321.4:c.838G>A ENSP00000252321.3:p.Glu280Lys
NM_002234.3:c.838G>A NP_002225.2:p.Glu280Lys
NM_002234.4:c.838G>A MANE Select NP_002225.2:p.Glu280Lys