Canonical Allele Identifier: CA10372332
Community Standard Title: NM_005391.5(PDK3):c.680C>T (p.Ala227Val)
Gene: PDK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.24526204C>T , CM000685.2:g.24526204C>T GRCh38
NC_000023.10:g.24544321C>T , CM000685.1:g.24544321C>T GRCh37
NC_000023.9:g.24454242C>T NCBI36
NG_016762.1:g.65978C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005391.5:c.680C>T MANE Select NP_005382.1:p.Ala227Val
ENST00000379162.9:c.680C>T MANE Select ENSP00000368460.4:p.Ala227Val
NM_001142386.2:c.680C>T NP_001135858.1:p.Ala227Val
NM_001142386.3:c.680C>T NP_001135858.1:p.Ala227Val
NM_005391.4:c.680C>T NP_005382.1:p.Ala227Val
ENST00000379162.8:c.680C>T ENSP00000368460.4:p.Ala227Val
ENST00000441463.2:c.680C>T ENSP00000387536.2:p.Ala227Val
ENST00000568479.2:c.680C>T ENSP00000498864.1:p.Ala227Val
ENST00000648777.1:c.680C>T ENSP00000497727.1:p.Ala227Val
ENST00000688031.1:n.808C>T
ENST00000688551.1:n.2022C>T