Canonical Allele Identifier: CA2617209763
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5044032-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044032C>T , CM000674.2:g.5044032C>T GRCh38
NC_000012.11:g.5153198C>T , CM000674.1:g.5153198C>T GRCh37
NC_000012.10:g.5023459C>T NCBI36
NG_012198.1:g.5114C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.-116C>T MANE Select ENSP00000252321.3:n.-116C>T
ENST00000252321.4:c.-116C>T ENSP00000252321.3:n.-116C>T
NM_002234.3:c.-116C>T NP_002225.2:n.-116C>T
NM_002234.4:c.-116C>T MANE Select NP_002225.2:n.-116C>T