Canonical Allele Identifier: CA478094949
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs112226250
gnomAD v2: 12-5153478-C-T
gnomAD v4: 12-5044312-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044312C>T , CM000674.2:g.5044312C>T GRCh38
NC_000012.11:g.5153478C>T , CM000674.1:g.5153478C>T GRCh37
NC_000012.10:g.5023739C>T NCBI36
NG_012198.1:g.5394C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.165C>T MANE Select ENSP00000252321.3:p.Gly55=
ENST00000252321.4:c.165C>T ENSP00000252321.3:p.Gly55=
NM_002234.3:c.165C>T NP_002225.2:p.Gly55=
NM_002234.4:c.165C>T MANE Select NP_002225.2:p.Gly55=