Canonical Allele Identifier: CA478094792
Gene: KCNA5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.5153379C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044213C>G , CM000674.2:g.5044213C>G GRCh38
NC_000012.11:g.5153379C>G , CM000674.1:g.5153379C>G GRCh37
NC_000012.10:g.5023640C>G NCBI36
NG_012198.1:g.5295C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.66C>G MANE Select ENSP00000252321.3:p.Ala22=
ENST00000252321.4:c.66C>G ENSP00000252321.3:p.Ala22=
NM_002234.3:c.66C>G NP_002225.2:p.Ala22=
NM_002234.4:c.66C>G MANE Select NP_002225.2:p.Ala22=
Search 100 bp 5'
Search 100 bp 3'