Canonical Allele Identifier: CA478095936
Gene: KCNA5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.5155077C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045911C>A , CM000674.2:g.5045911C>A GRCh38
NC_000012.11:g.5155077C>A , CM000674.1:g.5155077C>A GRCh37
NC_000012.10:g.5025338C>A NCBI36
NG_012198.1:g.6993C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1764C>A MANE Select ENSP00000252321.3:p.Val588=
ENST00000252321.4:c.1764C>A ENSP00000252321.3:p.Val588=
NM_002234.3:c.1764C>A NP_002225.2:p.Val588=
NM_002234.4:c.1764C>A MANE Select NP_002225.2:p.Val588=