Canonical Allele Identifier: CA383467167
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5045910-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045910T>A , CM000674.2:g.5045910T>A GRCh38
NC_000012.11:g.5155076T>A , CM000674.1:g.5155076T>A GRCh37
NC_000012.10:g.5025337T>A NCBI36
NG_012198.1:g.6992T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1763T>A MANE Select ENSP00000252321.3:p.Val588Asp
ENST00000252321.4:c.1763T>A ENSP00000252321.3:p.Val588Asp
NM_002234.3:c.1763T>A NP_002225.2:p.Val588Asp
NM_002234.4:c.1763T>A MANE Select NP_002225.2:p.Val588Asp