Canonical Allele Identifier: CA383464698
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5044713-T-A
MyVariant Identifiers: chr12:g.5153879T>A (hg19) chr12:g.5044713T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044713T>A , CM000674.2:g.5044713T>A GRCh38
NC_000012.11:g.5153879T>A , CM000674.1:g.5153879T>A GRCh37
NC_000012.10:g.5024140T>A NCBI36
NG_012198.1:g.5795T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.566T>A MANE Select ENSP00000252321.3:p.Val189Asp
ENST00000252321.4:c.566T>A ENSP00000252321.3:p.Val189Asp
NM_002234.3:c.566T>A NP_002225.2:p.Val189Asp
NM_002234.4:c.566T>A MANE Select NP_002225.2:p.Val189Asp
Search 100 bp 5'
Search 100 bp 3'