Canonical Allele Identifier: CA1367631338
Gene: PDHB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58430836A= , CM000665.2:g.58430836A= GRCh38
NC_000003.11:g.58416563A= , CM000665.1:g.58416563A= GRCh37
NC_000003.10:g.58391603A= NCBI36
NG_016860.1:g.8017T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000302746.11:c.410T= MANE Select ENSP00000307241.6:p.Leu137=
ENST00000302746.10:c.410T= ENSP00000307241.6:p.Leu137=
ENST00000383714.8:c.356T= ENSP00000373220.4:p.Leu119=
ENST00000461692.5:n.523T=
ENST00000469364.5:c.410T= ENSP00000419580.1:p.Leu137=
ENST00000474765.1:c.356T= ENSP00000418448.1:p.Leu119=
ENST00000479945.1:n.2815T=
ENST00000480626.5:n.502T=
ENST00000485460.5:c.403+7T= ENSP00000417267.1:n.403+7T=
NM_000925.3:c.410T= NP_000916.2:p.Leu137=
NM_001173468.1:c.403+7T= NP_001166939.1:n.403+7T=
NM_001315536.1:c.356T= NP_001302465.1:p.Leu119=
NR_033384.1:n.523T=
NM_000925.4:c.410T= MANE Select NP_000916.2:p.Leu137=
NM_001173468.2:c.403+7T= NP_001166939.1:n.403+7T=
NM_001315536.2:c.356T= NP_001302465.1:p.Leu119=
NR_033384.2:n.516T=