Canonical Allele Identifier: CA6399535
Gene: KCNA5 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.5044226G>A
GRCh37 chr12:g.5153392G>A
Revel Score:
ENST00000252321 (MANE Select) 0.245
gnomAD v2:
12:5153392 G / A
gnomAD v3:
12:5044226 G / A
gnomAD v4:
chr12-5044226-G-A
Joint Max Group AF 0.00309231 (AFR)
Genomes Max Group AF 0.00280026 (AFR)
Exomes Max Group AF 0.00315439 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044226G>A , CM000674.2:g.5044226G>A GRCh38
NC_000012.11:g.5153392G>A , CM000674.1:g.5153392G>A GRCh37
NC_000012.10:g.5023653G>A NCBI36
NG_012198.1:g.5308G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.79G>A MANE Select ENSP00000252321.3:p.Gly27Ser
ENST00000252321.4:c.79G>A ENSP00000252321.3:p.Gly27Ser
NM_002234.3:c.79G>A NP_002225.2:p.Gly27Ser
NM_002234.4:c.79G>A MANE Select NP_002225.2:p.Gly27Ser
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