Canonical Allele Identifier: CA434040359

Gene: PDHB

Linked Data

• ClinVar Variation Id: 2750446
• ClinVar RCV Id: RCV003514966
• MyVariant Identifiers: chr3:g.58416565G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58430838G>A , CM000665.2:g.58430838G>A	GRCh38
NC_000003.11:g.58416565G>A , CM000665.1:g.58416565G>A	GRCh37
NC_000003.10:g.58391605G>A	NCBI36
NG_016860.1:g.8015C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.408C>T MANE Select	ENSP00000307241.6:p.Gly136=
ENST00000302746.10:c.408C>T	ENSP00000307241.6:p.Gly136=
ENST00000383714.8:c.354C>T	ENSP00000373220.4:p.Gly118=
ENST00000461692.5:n.521C>T
ENST00000469364.5:c.408C>T	ENSP00000419580.1:p.Gly136=
ENST00000474765.1:c.354C>T	ENSP00000418448.1:p.Gly118=
ENST00000479945.1:n.2813C>T
ENST00000480626.5:n.500C>T
ENST00000485460.5:c.403+5C>T	ENSP00000417267.1:n.403+5C>T
NM_000925.3:c.408C>T	NP_000916.2:p.Gly136=
NM_001173468.1:c.403+5C>T	NP_001166939.1:n.403+5C>T
NM_001315536.1:c.354C>T	NP_001302465.1:p.Gly118=
NR_033384.1:n.521C>T
NM_000925.4:c.408C>T MANE Select	NP_000916.2:p.Gly136=
NM_001173468.2:c.403+5C>T	NP_001166939.1:n.403+5C>T
NM_001315536.2:c.354C>T	NP_001302465.1:p.Gly118=
NR_033384.2:n.514C>T