Canonical Allele Identifier: CA478096065
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs576837393
gnomAD v2: 12-5154807-G-T
gnomAD v4: 12-5045641-G-T
MyVariant Identifiers: chr12:g.5154807G>T (hg19) chr12:g.5045641G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045641G>T , CM000674.2:g.5045641G>T GRCh38
NC_000012.11:g.5154807G>T , CM000674.1:g.5154807G>T GRCh37
NC_000012.10:g.5025068G>T NCBI36
NG_012198.1:g.6723G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1494G>T MANE Select ENSP00000252321.3:p.Ser498=
ENST00000252321.4:c.1494G>T ENSP00000252321.3:p.Ser498=
NM_002234.3:c.1494G>T NP_002225.2:p.Ser498=
NM_002234.4:c.1494G>T MANE Select NP_002225.2:p.Ser498=
Search 100 bp 5'
Search 100 bp 3'