Canonical Allele Identifier: CA383466059
Gene: KCNA5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045385T>A , CM000674.2:g.5045385T>A GRCh38
NC_000012.11:g.5154551T>A , CM000674.1:g.5154551T>A GRCh37
NC_000012.10:g.5024812T>A NCBI36
NG_012198.1:g.6467T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1238T>A MANE Select ENSP00000252321.3:p.Leu413His
ENST00000252321.4:c.1238T>A ENSP00000252321.3:p.Leu413His
NM_002234.3:c.1238T>A NP_002225.2:p.Leu413His
NM_002234.4:c.1238T>A MANE Select NP_002225.2:p.Leu413His