Canonical Allele Identifier: CA383466459
Gene: KCNA5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045570G>C , CM000674.2:g.5045570G>C GRCh38
NC_000012.11:g.5154736G>C , CM000674.1:g.5154736G>C GRCh37
NC_000012.10:g.5024997G>C NCBI36
NG_012198.1:g.6652G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1423G>C MANE Select ENSP00000252321.3:p.Val475Leu
ENST00000252321.4:c.1423G>C ENSP00000252321.3:p.Val475Leu
NM_002234.3:c.1423G>C NP_002225.2:p.Val475Leu
NM_002234.4:c.1423G>C MANE Select NP_002225.2:p.Val475Leu