Canonical Allele Identifier: CA383466482
Gene: KCNA5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045581G>C , CM000674.2:g.5045581G>C GRCh38
NC_000012.11:g.5154747G>C , CM000674.1:g.5154747G>C GRCh37
NC_000012.10:g.5025008G>C NCBI36
NG_012198.1:g.6663G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1434G>C MANE Select ENSP00000252321.3:p.Met478Ile
ENST00000252321.4:c.1434G>C ENSP00000252321.3:p.Met478Ile
NM_002234.3:c.1434G>C NP_002225.2:p.Met478Ile
NM_002234.4:c.1434G>C MANE Select NP_002225.2:p.Met478Ile