Canonical Allele Identifier: CA412602550

Gene: PDK3

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.24526264A>C , CM000685.2:g.24526264A>C	GRCh38
NC_000023.10:g.24544381A>C , CM000685.1:g.24544381A>C	GRCh37
NC_000023.9:g.24454302A>C	NCBI36
NG_016762.1:g.66038A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005391.5:c.740A>C MANE Select	NP_005382.1:p.Glu247Ala
ENST00000379162.9:c.740A>C MANE Select	ENSP00000368460.4:p.Glu247Ala
NM_001142386.2:c.740A>C	NP_001135858.1:p.Glu247Ala
NM_001142386.3:c.740A>C	NP_001135858.1:p.Glu247Ala
NM_005391.4:c.740A>C	NP_005382.1:p.Glu247Ala
ENST00000379162.8:c.740A>C	ENSP00000368460.4:p.Glu247Ala
ENST00000441463.2:c.740A>C	ENSP00000387536.2:p.Glu247Ala
ENST00000568479.2:c.740A>C	ENSP00000498864.1:p.Glu247Ala
ENST00000648777.1:c.740A>C	ENSP00000497727.1:p.Glu247Ala
ENST00000688031.1:n.868A>C
ENST00000688551.1:n.2082A>C