Canonical Allele Identifier: CA353362084

Gene: PDHB

Linked Data

• gnomAD v4: 3-58430837-G-A
• MyVariant Identifiers: chr3:g.58416564G>A (hg19) ; chr3:g.58430837G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58430837G>A , CM000665.2:g.58430837G>A	GRCh38
NC_000003.11:g.58416564G>A , CM000665.1:g.58416564G>A	GRCh37
NC_000003.10:g.58391604G>A	NCBI36
NG_016860.1:g.8016C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.409C>T MANE Select	ENSP00000307241.6:p.Leu137Phe
ENST00000302746.10:c.409C>T	ENSP00000307241.6:p.Leu137Phe
ENST00000383714.8:c.355C>T	ENSP00000373220.4:p.Leu119Phe
ENST00000461692.5:n.522C>T
ENST00000469364.5:c.409C>T	ENSP00000419580.1:p.Leu137Phe
ENST00000474765.1:c.355C>T	ENSP00000418448.1:p.Leu119Phe
ENST00000479945.1:n.2814C>T
ENST00000480626.5:n.501C>T
ENST00000485460.5:c.403+6C>T	ENSP00000417267.1:n.403+6C>T
NM_000925.3:c.409C>T	NP_000916.2:p.Leu137Phe
NM_001173468.1:c.403+6C>T	NP_001166939.1:n.403+6C>T
NM_001315536.1:c.355C>T	NP_001302465.1:p.Leu119Phe
NR_033384.1:n.522C>T
NM_000925.4:c.409C>T MANE Select	NP_000916.2:p.Leu137Phe
NM_001173468.2:c.403+6C>T	NP_001166939.1:n.403+6C>T
NM_001315536.2:c.355C>T	NP_001302465.1:p.Leu119Phe
NR_033384.2:n.515C>T