Canonical Allele Identifier: CA6399794
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs777266962
gnomAD v2: 12-5154365-G-C
gnomAD v3: 12-5045199-G-C
gnomAD v4: 12-5045199-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045199G>C , CM000674.2:g.5045199G>C GRCh38
NC_000012.11:g.5154365G>C , CM000674.1:g.5154365G>C GRCh37
NC_000012.10:g.5024626G>C NCBI36
NG_012198.1:g.6281G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.1052G>C MANE Select ENSP00000252321.3:p.Gly351Ala
ENST00000252321.4:c.1052G>C ENSP00000252321.3:p.Gly351Ala
NM_002234.3:c.1052G>C NP_002225.2:p.Gly351Ala
NM_002234.4:c.1052G>C MANE Select NP_002225.2:p.Gly351Ala