Canonical Allele Identifier: CA383461817
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5044207-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044207T>A , CM000674.2:g.5044207T>A GRCh38
NC_000012.11:g.5153373T>A , CM000674.1:g.5153373T>A GRCh37
NC_000012.10:g.5023634T>A NCBI36
NG_012198.1:g.5289T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.60T>A MANE Select ENSP00000252321.3:p.Asp20Glu
ENST00000252321.4:c.60T>A ENSP00000252321.3:p.Asp20Glu
NM_002234.3:c.60T>A NP_002225.2:p.Asp20Glu
NM_002234.4:c.60T>A MANE Select NP_002225.2:p.Asp20Glu