Canonical Allele Identifier: CA383466612
Gene: KCNA5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045643T>A , CM000674.2:g.5045643T>A GRCh38
NC_000012.11:g.5154809T>A , CM000674.1:g.5154809T>A GRCh37
NC_000012.10:g.5025070T>A NCBI36
NG_012198.1:g.6725T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1496T>A MANE Select ENSP00000252321.3:p.Leu499Gln
ENST00000252321.4:c.1496T>A ENSP00000252321.3:p.Leu499Gln
NM_002234.3:c.1496T>A NP_002225.2:p.Leu499Gln
NM_002234.4:c.1496T>A MANE Select NP_002225.2:p.Leu499Gln