ClinGen Allele Registry
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Canonical Allele Identifier:
CA10372414
Gene: PDK3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.24539144A>C , CM000685.2:g.24539144A>C
GRCh38
NC_000023.10:g.24557261A>C , CM000685.1:g.24557261A>C
GRCh37
NC_000023.9:g.24467182A>C
NCBI36
NG_016762.1:g.78918A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000688031.1:n.1356A>C
ENST00000568479.2:c.1228A>C
ENSP00000498864.1:p.Lys410Gln
ENST00000648777.1:c.*595A>C
ENSP00000497727.1:n.*595A>C
ENST00000441463.2:c.1228A>C
ENSP00000387536.2:p.Lys410Gln
NM_001142386.2:c.1228A>C
NP_001135858.1:p.Lys410Gln
NM_001142386.3:c.1228A>C
NP_001135858.1:p.Lys410Gln
Search 100 bp 5'
Search 100 bp 3'