Canonical Allele Identifier: CA6399933
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs774618268
ExAC: 12:5155034 A / T
gnomAD v2: 12-5155034-A-T
gnomAD v4: 12-5045868-A-T
MyVariant Identifiers: chr12:g.5155034A>T (hg19) chr12:g.5045868A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045868A>T , CM000674.2:g.5045868A>T GRCh38
NC_000012.11:g.5155034A>T , CM000674.1:g.5155034A>T GRCh37
NC_000012.10:g.5025295A>T NCBI36
NG_012198.1:g.6950A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1721A>T MANE Select ENSP00000252321.3:p.Asp574Val
ENST00000252321.4:c.1721A>T ENSP00000252321.3:p.Asp574Val
NM_002234.3:c.1721A>T NP_002225.2:p.Asp574Val
NM_002234.4:c.1721A>T MANE Select NP_002225.2:p.Asp574Val
Search 100 bp 5'
Search 100 bp 3'