Canonical Allele Identifier: CA383461939
Gene: KCNA5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044271C>T , CM000674.2:g.5044271C>T GRCh38
NC_000012.11:g.5153437C>T , CM000674.1:g.5153437C>T GRCh37
NC_000012.10:g.5023698C>T NCBI36
NG_012198.1:g.5353C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.124C>T MANE Select ENSP00000252321.3:p.Leu42Phe
ENST00000252321.4:c.124C>T ENSP00000252321.3:p.Leu42Phe
NM_002234.3:c.124C>T NP_002225.2:p.Leu42Phe
NM_002234.4:c.124C>T MANE Select NP_002225.2:p.Leu42Phe