Canonical Allele Identifier: CA383461911
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5044254-G-T
MyVariant Identifiers: chr12:g.5153420G>T (hg19) chr12:g.5044254G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044254G>T , CM000674.2:g.5044254G>T GRCh38
NC_000012.11:g.5153420G>T , CM000674.1:g.5153420G>T GRCh37
NC_000012.10:g.5023681G>T NCBI36
NG_012198.1:g.5336G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.107G>T MANE Select ENSP00000252321.3:p.Cys36Phe
ENST00000252321.4:c.107G>T ENSP00000252321.3:p.Cys36Phe
NM_002234.3:c.107G>T NP_002225.2:p.Cys36Phe
NM_002234.4:c.107G>T MANE Select NP_002225.2:p.Cys36Phe
Search 100 bp 5'
Search 100 bp 3'