Canonical Allele Identifier: CA478094986
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs928700501
gnomAD v3: 12-5044342-G-T
gnomAD v4: 12-5044342-G-T
MyVariant Identifiers: chr12:g.5153508G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044342G>T , CM000674.2:g.5044342G>T GRCh38
NC_000012.11:g.5153508G>T , CM000674.1:g.5153508G>T GRCh37
NC_000012.10:g.5023769G>T NCBI36
NG_012198.1:g.5424G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.195G>T MANE Select ENSP00000252321.3:p.Arg65=
ENST00000252321.4:c.195G>T ENSP00000252321.3:p.Arg65=
NM_002234.3:c.195G>T NP_002225.2:p.Arg65=
NM_002234.4:c.195G>T MANE Select NP_002225.2:p.Arg65=
Search 100 bp 5'
Search 100 bp 3'