Canonical Allele Identifier: CA6399546
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs779003594
ExAC: 12:5153457 G / C
gnomAD v2: 12-5153457-G-C
gnomAD v4: 12-5044291-G-C
MyVariant Identifiers: chr12:g.5153457G>C (hg19) chr12:g.5044291G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044291G>C , CM000674.2:g.5044291G>C GRCh38
NC_000012.11:g.5153457G>C , CM000674.1:g.5153457G>C GRCh37
NC_000012.10:g.5023718G>C NCBI36
NG_012198.1:g.5373G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.144G>C MANE Select ENSP00000252321.3:p.Glu48Asp
ENST00000252321.4:c.144G>C ENSP00000252321.3:p.Glu48Asp
NM_002234.3:c.144G>C NP_002225.2:p.Glu48Asp
NM_002234.4:c.144G>C MANE Select NP_002225.2:p.Glu48Asp
Search 100 bp 5'
Search 100 bp 3'