Canonical Allele Identifier: CA383462011
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2713568
ClinVar RCV Id: RCV003515757
dbSNP Id: rs776218588
gnomAD v4: 12-5044305-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044305G>A , CM000674.2:g.5044305G>A GRCh38
NC_000012.11:g.5153471G>A , CM000674.1:g.5153471G>A GRCh37
NC_000012.10:g.5023732G>A NCBI36
NG_012198.1:g.5387G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.158G>A MANE Select ENSP00000252321.3:p.Gly53Glu
ENST00000252321.4:c.158G>A ENSP00000252321.3:p.Gly53Glu
NM_002234.3:c.158G>A NP_002225.2:p.Gly53Glu
NM_002234.4:c.158G>A MANE Select NP_002225.2:p.Gly53Glu