Canonical Allele Identifier: CA383464814
Gene: KCNA5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044772G>A , CM000674.2:g.5044772G>A GRCh38
NC_000012.11:g.5153938G>A , CM000674.1:g.5153938G>A GRCh37
NC_000012.10:g.5024199G>A NCBI36
NG_012198.1:g.5854G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.625G>A MANE Select ENSP00000252321.3:p.Ala209Thr
ENST00000252321.4:c.625G>A ENSP00000252321.3:p.Ala209Thr
NM_002234.3:c.625G>A NP_002225.2:p.Ala209Thr
NM_002234.4:c.625G>A MANE Select NP_002225.2:p.Ala209Thr