Canonical Allele Identifier: CA383464978
Gene: KCNA5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.5154012G>T (hg19) chr12:g.5044846G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044846G>T , CM000674.2:g.5044846G>T GRCh38
NC_000012.11:g.5154012G>T , CM000674.1:g.5154012G>T GRCh37
NC_000012.10:g.5024273G>T NCBI36
NG_012198.1:g.5928G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.699G>T MANE Select ENSP00000252321.3:p.Gln233His
ENST00000252321.4:c.699G>T ENSP00000252321.3:p.Gln233His
NM_002234.3:c.699G>T NP_002225.2:p.Gln233His
NM_002234.4:c.699G>T MANE Select NP_002225.2:p.Gln233His
Search 100 bp 5'
Search 100 bp 3'