Canonical Allele Identifier: CA6399679
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs77281462
gnomAD v2: 12-5153947-C-A
gnomAD v4: 12-5044781-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044781C>A , CM000674.2:g.5044781C>A GRCh38
NC_000012.11:g.5153947C>A , CM000674.1:g.5153947C>A GRCh37
NC_000012.10:g.5024208C>A NCBI36
NG_012198.1:g.5863C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.634C>A MANE Select ENSP00000252321.3:p.Arg212Ser
ENST00000252321.4:c.634C>A ENSP00000252321.3:p.Arg212Ser
NM_002234.3:c.634C>A NP_002225.2:p.Arg212Ser
NM_002234.4:c.634C>A MANE Select NP_002225.2:p.Arg212Ser