Canonical Allele Identifier: CA478095908
Gene: KCNA5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.5155060C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045894C>T , CM000674.2:g.5045894C>T GRCh38
NC_000012.11:g.5155060C>T , CM000674.1:g.5155060C>T GRCh37
NC_000012.10:g.5025321C>T NCBI36
NG_012198.1:g.6976C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1747C>T MANE Select ENSP00000252321.3:p.Leu583=
ENST00000252321.4:c.1747C>T ENSP00000252321.3:p.Leu583=
NM_002234.3:c.1747C>T NP_002225.2:p.Leu583=
NM_002234.4:c.1747C>T MANE Select NP_002225.2:p.Leu583=