Canonical Allele Identifier: CA383461883
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1402764222
gnomAD v2: 12-5153407-G-A
gnomAD v4: 12-5044241-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044241G>A , CM000674.2:g.5044241G>A GRCh38
NC_000012.11:g.5153407G>A , CM000674.1:g.5153407G>A GRCh37
NC_000012.10:g.5023668G>A NCBI36
NG_012198.1:g.5323G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.94G>A MANE Select ENSP00000252321.3:p.Gly32Arg
ENST00000252321.4:c.94G>A ENSP00000252321.3:p.Gly32Arg
NM_002234.3:c.94G>A NP_002225.2:p.Gly32Arg
NM_002234.4:c.94G>A MANE Select NP_002225.2:p.Gly32Arg