Canonical Allele Identifier: CA6399838
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs749334744
gnomAD v2: 12-5154584-G-A
gnomAD v3: 12-5045418-G-A
gnomAD v4: 12-5045418-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045418G>A , CM000674.2:g.5045418G>A GRCh38
NC_000012.11:g.5154584G>A , CM000674.1:g.5154584G>A GRCh37
NC_000012.10:g.5024845G>A NCBI36
NG_012198.1:g.6500G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1271G>A MANE Select ENSP00000252321.3:p.Gly424Asp
ENST00000252321.4:c.1271G>A ENSP00000252321.3:p.Gly424Asp
NM_002234.3:c.1271G>A NP_002225.2:p.Gly424Asp
NM_002234.4:c.1271G>A MANE Select NP_002225.2:p.Gly424Asp