Canonical Allele Identifier: CA383464904
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5044813-A-C
MyVariant Identifiers: chr12:g.5153979A>C (hg19) chr12:g.5044813A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044813A>C , CM000674.2:g.5044813A>C GRCh38
NC_000012.11:g.5153979A>C , CM000674.1:g.5153979A>C GRCh37
NC_000012.10:g.5024240A>C NCBI36
NG_012198.1:g.5895A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.666A>C MANE Select ENSP00000252321.3:p.Glu222Asp
ENST00000252321.4:c.666A>C ENSP00000252321.3:p.Glu222Asp
NM_002234.3:c.666A>C NP_002225.2:p.Glu222Asp
NM_002234.4:c.666A>C MANE Select NP_002225.2:p.Glu222Asp
Search 100 bp 5'
Search 100 bp 3'