Canonical Allele Identifier: CA231867548
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs766098025
gnomAD v3: 12-5044760-C-A
gnomAD v4: 12-5044760-C-A
MyVariant Identifiers: chr12:g.5153926C>A (hg19) chr12:g.5044760C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044760C>A , CM000674.2:g.5044760C>A GRCh38
NC_000012.11:g.5153926C>A , CM000674.1:g.5153926C>A GRCh37
NC_000012.10:g.5024187C>A NCBI36
NG_012198.1:g.5842C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.613C>A MANE Select ENSP00000252321.3:p.Leu205Met
ENST00000252321.4:c.613C>A ENSP00000252321.3:p.Leu205Met
NM_002234.3:c.613C>A NP_002225.2:p.Leu205Met
NM_002234.4:c.613C>A MANE Select NP_002225.2:p.Leu205Met
Search 100 bp 5'
Search 100 bp 3'