Canonical Allele Identifier: CA231866655
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs533669565
gnomAD v3: 12-5044070-G-T
gnomAD v4: 12-5044070-G-T
MyVariant Identifiers: chr12:g.5153236G>T (hg19) chr12:g.5044070G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044070G>T , CM000674.2:g.5044070G>T GRCh38
NC_000012.11:g.5153236G>T , CM000674.1:g.5153236G>T GRCh37
NC_000012.10:g.5023497G>T NCBI36
NG_012198.1:g.5152G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.-78G>T MANE Select ENSP00000252321.3:n.-78G>T
ENST00000252321.4:c.-78G>T ENSP00000252321.3:n.-78G>T
NM_002234.3:c.-78G>T NP_002225.2:n.-78G>T
NM_002234.4:c.-78G>T MANE Select NP_002225.2:n.-78G>T
Search 100 bp 5'
Search 100 bp 3'