Canonical Allele Identifier: CA6399665
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs761392305
gnomAD v2: 12-5153911-A-T
gnomAD v3: 12-5044745-A-T
gnomAD v4: 12-5044745-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044745A>T , CM000674.2:g.5044745A>T GRCh38
NC_000012.11:g.5153911A>T , CM000674.1:g.5153911A>T GRCh37
NC_000012.10:g.5024172A>T NCBI36
NG_012198.1:g.5827A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.598A>T MANE Select ENSP00000252321.3:p.Ile200Leu
ENST00000252321.4:c.598A>T ENSP00000252321.3:p.Ile200Leu
NM_002234.3:c.598A>T NP_002225.2:p.Ile200Leu
NM_002234.4:c.598A>T MANE Select NP_002225.2:p.Ile200Leu