Canonical Allele Identifier: CA383461954
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5044277-G-T
MyVariant Identifiers: chr12:g.5153443G>T (hg19) chr12:g.5044277G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044277G>T , CM000674.2:g.5044277G>T GRCh38
NC_000012.11:g.5153443G>T , CM000674.1:g.5153443G>T GRCh37
NC_000012.10:g.5023704G>T NCBI36
NG_012198.1:g.5359G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.130G>T MANE Select ENSP00000252321.3:p.Asp44Tyr
ENST00000252321.4:c.130G>T ENSP00000252321.3:p.Asp44Tyr
NM_002234.3:c.130G>T NP_002225.2:p.Asp44Tyr
NM_002234.4:c.130G>T MANE Select NP_002225.2:p.Asp44Tyr
Search 100 bp 5'
Search 100 bp 3'