Canonical Allele Identifier: CA603482571
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1345916139
gnomAD v2: 12-5153266-C-A
gnomAD v4: 12-5044100-C-A
MyVariant Identifiers: chr12:g.5153266C>A (hg19) chr12:g.5044100C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044100C>A , CM000674.2:g.5044100C>A GRCh38
NC_000012.11:g.5153266C>A , CM000674.1:g.5153266C>A GRCh37
NC_000012.10:g.5023527C>A NCBI36
NG_012198.1:g.5182C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.-48C>A MANE Select ENSP00000252321.3:n.-48C>A
ENST00000252321.4:c.-48C>A ENSP00000252321.3:n.-48C>A
NM_002234.3:c.-48C>A NP_002225.2:n.-48C>A
NM_002234.4:c.-48C>A MANE Select NP_002225.2:n.-48C>A
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