Canonical Allele Identifier: CA383466922
Gene: KCNA5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045790T>A , CM000674.2:g.5045790T>A GRCh38
NC_000012.11:g.5154956T>A , CM000674.1:g.5154956T>A GRCh37
NC_000012.10:g.5025217T>A NCBI36
NG_012198.1:g.6872T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.1643T>A MANE Select ENSP00000252321.3:p.Leu548Gln
ENST00000252321.4:c.1643T>A ENSP00000252321.3:p.Leu548Gln
NM_002234.3:c.1643T>A NP_002225.2:p.Leu548Gln
NM_002234.4:c.1643T>A MANE Select NP_002225.2:p.Leu548Gln