Canonical Allele Identifier: CA412602446
Community Standard Title: NM_005391.5(PDK3):c.695T>C (p.Ile232Thr)
Gene: PDK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.24526219T>C , CM000685.2:g.24526219T>C GRCh38
NC_000023.10:g.24544336T>C , CM000685.1:g.24544336T>C GRCh37
NC_000023.9:g.24454257T>C NCBI36
NG_016762.1:g.65993T>C

Transcript Alleles

HGVS Amino-acid Change
NM_005391.5:c.695T>C MANE Select NP_005382.1:p.Ile232Thr
ENST00000379162.9:c.695T>C MANE Select ENSP00000368460.4:p.Ile232Thr
NM_001142386.2:c.695T>C NP_001135858.1:p.Ile232Thr
NM_001142386.3:c.695T>C NP_001135858.1:p.Ile232Thr
NM_005391.4:c.695T>C NP_005382.1:p.Ile232Thr
ENST00000379162.8:c.695T>C ENSP00000368460.4:p.Ile232Thr
ENST00000441463.2:c.695T>C ENSP00000387536.2:p.Ile232Thr
ENST00000568479.2:c.695T>C ENSP00000498864.1:p.Ile232Thr
ENST00000648777.1:c.695T>C ENSP00000497727.1:p.Ile232Thr
ENST00000688031.1:n.823T>C
ENST00000688551.1:n.2037T>C