Canonical Allele Identifier: CA478094502
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5044195-C-A
MyVariant Identifiers: chr12:g.5153361C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044195C>A , CM000674.2:g.5044195C>A GRCh38
NC_000012.11:g.5153361C>A , CM000674.1:g.5153361C>A GRCh37
NC_000012.10:g.5023622C>A NCBI36
NG_012198.1:g.5277C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.48C>A MANE Select ENSP00000252321.3:p.Val16=
ENST00000252321.4:c.48C>A ENSP00000252321.3:p.Val16=
NM_002234.3:c.48C>A NP_002225.2:p.Val16=
NM_002234.4:c.48C>A MANE Select NP_002225.2:p.Val16=