Canonical Allele Identifier: CA478095731
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1122481
ClinVar RCV Id: RCV001453154
dbSNP Id: rs2137773329
MyVariant Identifiers: chr12:g.5154600C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045434C>A , CM000674.2:g.5045434C>A GRCh38
NC_000012.11:g.5154600C>A , CM000674.1:g.5154600C>A GRCh37
NC_000012.10:g.5024861C>A NCBI36
NG_012198.1:g.6516C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1287C>A MANE Select ENSP00000252321.3:p.Ala429=
ENST00000252321.4:c.1287C>A ENSP00000252321.3:p.Ala429=
NM_002234.3:c.1287C>A NP_002225.2:p.Ala429=
NM_002234.4:c.1287C>A MANE Select NP_002225.2:p.Ala429=
Search 100 bp 5'
Search 100 bp 3'