Canonical Allele Identifier: CA478095354
Gene: KCNA5 HGNC NCBI

Linked Data

COSMIC: COSM940451
MyVariant Identifiers: chr12:g.5154060G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044894G>A , CM000674.2:g.5044894G>A GRCh38
NC_000012.11:g.5154060G>A , CM000674.1:g.5154060G>A GRCh37
NC_000012.10:g.5024321G>A NCBI36
NG_012198.1:g.5976G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.747G>A MANE Select ENSP00000252321.3:p.Ala249=
ENST00000252321.4:c.747G>A ENSP00000252321.3:p.Ala249=
NM_002234.3:c.747G>A NP_002225.2:p.Ala249=
NM_002234.4:c.747G>A MANE Select NP_002225.2:p.Ala249=