Canonical Allele Identifier: CA383461904
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5044251-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044251A>G , CM000674.2:g.5044251A>G GRCh38
NC_000012.11:g.5153417A>G , CM000674.1:g.5153417A>G GRCh37
NC_000012.10:g.5023678A>G NCBI36
NG_012198.1:g.5333A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.104A>G MANE Select ENSP00000252321.3:p.Gln35Arg
ENST00000252321.4:c.104A>G ENSP00000252321.3:p.Gln35Arg
NM_002234.3:c.104A>G NP_002225.2:p.Gln35Arg
NM_002234.4:c.104A>G MANE Select NP_002225.2:p.Gln35Arg