Canonical Allele Identifier: CA383464736
Gene: KCNA5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044734T>G , CM000674.2:g.5044734T>G GRCh38
NC_000012.11:g.5153900T>G , CM000674.1:g.5153900T>G GRCh37
NC_000012.10:g.5024161T>G NCBI36
NG_012198.1:g.5816T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.587T>G MANE Select ENSP00000252321.3:p.Phe196Cys
ENST00000252321.4:c.587T>G ENSP00000252321.3:p.Phe196Cys
NM_002234.3:c.587T>G NP_002225.2:p.Phe196Cys
NM_002234.4:c.587T>G MANE Select NP_002225.2:p.Phe196Cys