Canonical Allele Identifier: CA6399776
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs376977376
ExAC: 12:5154280 C / A
gnomAD v2: 12-5154280-C-A
gnomAD v3: 12-5045114-C-A
gnomAD v4: 12-5045114-C-A
MyVariant Identifiers: chr12:g.5154280C>A (hg19) chr12:g.5045114C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045114C>A , CM000674.2:g.5045114C>A GRCh38
NC_000012.11:g.5154280C>A , CM000674.1:g.5154280C>A GRCh37
NC_000012.10:g.5024541C>A NCBI36
NG_012198.1:g.6196C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.967C>A MANE Select ENSP00000252321.3:p.Pro323Thr
ENST00000252321.4:c.967C>A ENSP00000252321.3:p.Pro323Thr
NM_002234.3:c.967C>A NP_002225.2:p.Pro323Thr
NM_002234.4:c.967C>A MANE Select NP_002225.2:p.Pro323Thr
Search 100 bp 5'
Search 100 bp 3'