Canonical Allele Identifier: CA2013431316
Gene: KCNA5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045642C= , CM000674.2:g.5045642C= GRCh38
NC_000012.11:g.5154808C= , CM000674.1:g.5154808C= GRCh37
NC_000012.10:g.5025069C= NCBI36
NG_012198.1:g.6724C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1495C= MANE Select ENSP00000252321.3:p.Leu499=
ENST00000252321.4:c.1495C= ENSP00000252321.3:p.Leu499=
NM_002234.3:c.1495C= NP_002225.2:p.Leu499=
NM_002234.4:c.1495C= MANE Select NP_002225.2:p.Leu499=
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