Canonical Allele Identifier: CA478096130
Gene: KCNA5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.5154864C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045698C>A , CM000674.2:g.5045698C>A GRCh38
NC_000012.11:g.5154864C>A , CM000674.1:g.5154864C>A GRCh37
NC_000012.10:g.5025125C>A NCBI36
NG_012198.1:g.6780C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1551C>A MANE Select ENSP00000252321.3:p.Ser517=
ENST00000252321.4:c.1551C>A ENSP00000252321.3:p.Ser517=
NM_002234.3:c.1551C>A NP_002225.2:p.Ser517=
NM_002234.4:c.1551C>A MANE Select NP_002225.2:p.Ser517=