Canonical Allele Identifier: CA383467220
Gene: KCNA5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.5155100T>A (hg19) chr12:g.5045934T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045934T>A , CM000674.2:g.5045934T>A GRCh38
NC_000012.11:g.5155100T>A , CM000674.1:g.5155100T>A GRCh37
NC_000012.10:g.5025361T>A NCBI36
NG_012198.1:g.7016T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.1787T>A MANE Select ENSP00000252321.3:p.Leu596Ter
ENST00000252321.4:c.1787T>A ENSP00000252321.3:p.Leu596Ter
NM_002234.3:c.1787T>A NP_002225.2:p.Leu596Ter
NM_002234.4:c.1787T>A MANE Select NP_002225.2:p.Leu596Ter
Search 100 bp 5'
Search 100 bp 3'