Canonical Allele Identifier: CA231868767
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1023322180
gnomAD v4: 12-5045432-G-A
COSMIC: COSM6000180
MyVariant Identifiers: chr12:g.5154598G>A (hg19) chr12:g.5045432G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045432G>A , CM000674.2:g.5045432G>A GRCh38
NC_000012.11:g.5154598G>A , CM000674.1:g.5154598G>A GRCh37
NC_000012.10:g.5024859G>A NCBI36
NG_012198.1:g.6514G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1285G>A MANE Select ENSP00000252321.3:p.Ala429Thr
ENST00000252321.4:c.1285G>A ENSP00000252321.3:p.Ala429Thr
NM_002234.3:c.1285G>A NP_002225.2:p.Ala429Thr
NM_002234.4:c.1285G>A MANE Select NP_002225.2:p.Ala429Thr
Search 100 bp 5'
Search 100 bp 3'