Canonical Allele Identifier: CA478094961
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5044324-C-T
MyVariant Identifiers: chr12:g.5153490C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044324C>T , CM000674.2:g.5044324C>T GRCh38
NC_000012.11:g.5153490C>T , CM000674.1:g.5153490C>T GRCh37
NC_000012.10:g.5023751C>T NCBI36
NG_012198.1:g.5406C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.177C>T MANE Select ENSP00000252321.3:p.Asp59=
ENST00000252321.4:c.177C>T ENSP00000252321.3:p.Asp59=
NM_002234.3:c.177C>T NP_002225.2:p.Asp59=
NM_002234.4:c.177C>T MANE Select NP_002225.2:p.Asp59=