Canonical Allele Identifier: CA640999794
Community Standard Title: NM_005391.5(PDK3):c.249-15T>C
Gene: PDK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.24498814T>C , CM000685.2:g.24498814T>C GRCh38
NC_000023.10:g.24516931T>C , CM000685.1:g.24516931T>C GRCh37
NC_000023.9:g.24426852T>C NCBI36
NG_016762.1:g.38588T>C

Transcript Alleles

HGVS Amino-acid Change
NM_005391.5:c.249-15T>C MANE Select NP_005382.1:n.249-15T>C
ENST00000379162.9:c.249-15T>C MANE Select ENSP00000368460.4:n.249-15T>C
NM_001142386.2:c.249-15T>C NP_001135858.1:n.249-15T>C
NM_001142386.3:c.249-15T>C NP_001135858.1:n.249-15T>C
NM_005391.4:c.249-15T>C NP_005382.1:n.249-15T>C
ENST00000379162.8:c.249-15T>C ENSP00000368460.4:n.249-15T>C
ENST00000441463.2:c.249-15T>C ENSP00000387536.2:n.249-15T>C
ENST00000493226.1:n.144-15T>C
ENST00000493226.2:n.461-15T>C
ENST00000568479.2:c.249-15T>C ENSP00000498864.1:n.249-15T>C
ENST00000648777.1:c.249-15T>C ENSP00000497727.1:n.249-15T>C