Canonical Allele Identifier: CA6399530
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1506184
ClinVar RCV Id: RCV002004430
dbSNP Id: rs774385439
ExAC: 12:5153348 G / A
gnomAD v2: 12-5153348-G-A
gnomAD v4: 12-5044182-G-A
MyVariant Identifiers: chr12:g.5153348G>A (hg19) chr12:g.5044182G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044182G>A , CM000674.2:g.5044182G>A GRCh38
NC_000012.11:g.5153348G>A , CM000674.1:g.5153348G>A GRCh37
NC_000012.10:g.5023609G>A NCBI36
NG_012198.1:g.5264G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.35G>A MANE Select ENSP00000252321.3:p.Gly12Asp
ENST00000252321.4:c.35G>A ENSP00000252321.3:p.Gly12Asp
NM_002234.3:c.35G>A NP_002225.2:p.Gly12Asp
NM_002234.4:c.35G>A MANE Select NP_002225.2:p.Gly12Asp
Search 100 bp 5'
Search 100 bp 3'