Canonical Allele Identifier: CA231867731
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs55874756

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044889T>C , CM000674.2:g.5044889T>C GRCh38
NC_000012.11:g.5154055T>C , CM000674.1:g.5154055T>C GRCh37
NC_000012.10:g.5024316T>C NCBI36
NG_012198.1:g.5971T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.742T>C MANE Select ENSP00000252321.3:p.Ser248Pro
ENST00000252321.4:c.742T>C ENSP00000252321.3:p.Ser248Pro
NM_002234.3:c.742T>C NP_002225.2:p.Ser248Pro
NM_002234.4:c.742T>C MANE Select NP_002225.2:p.Ser248Pro