Canonical Allele Identifier: CA6399658
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs200279465
ExAC: 12:5153882 A / C
gnomAD v2: 12-5153882-A-C
gnomAD v4: 12-5044716-A-C
MyVariant Identifiers: chr12:g.5153882A>C (hg19) chr12:g.5044716A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044716A>C , CM000674.2:g.5044716A>C GRCh38
NC_000012.11:g.5153882A>C , CM000674.1:g.5153882A>C GRCh37
NC_000012.10:g.5024143A>C NCBI36
NG_012198.1:g.5798A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.569A>C MANE Select ENSP00000252321.3:p.Asn190Thr
ENST00000252321.4:c.569A>C ENSP00000252321.3:p.Asn190Thr
NM_002234.3:c.569A>C NP_002225.2:p.Asn190Thr
NM_002234.4:c.569A>C MANE Select NP_002225.2:p.Asn190Thr
Search 100 bp 5'
Search 100 bp 3'