Canonical Allele Identifier: CA353360941

Gene: PDHB

Linked Data

• gnomAD v4: 3-58430666-T-C
• MyVariant Identifiers: chr3:g.58416393T>C (hg19) ; chr3:g.58430666T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58430666T>C , CM000665.2:g.58430666T>C	GRCh38
NC_000003.11:g.58416393T>C , CM000665.1:g.58416393T>C	GRCh37
NC_000003.10:g.58391433T>C	NCBI36
NG_016860.1:g.8187A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.580A>G MANE Select	ENSP00000307241.6:p.Asn194Asp
ENST00000302746.10:c.580A>G	ENSP00000307241.6:p.Asn194Asp
ENST00000383714.8:c.526A>G	ENSP00000373220.4:p.Asn176Asp
ENST00000461692.5:n.693A>G
ENST00000469364.5:c.580A>G	ENSP00000419580.1:p.Asn194Asp
ENST00000474765.1:c.526A>G	ENSP00000418448.1:p.Asn176Asp
ENST00000479945.1:n.2985A>G
ENST00000480626.5:n.672A>G
ENST00000485460.5:c.526A>G	ENSP00000417267.1:p.Asn176Asp
NM_000925.3:c.580A>G	NP_000916.2:p.Asn194Asp
NM_001173468.1:c.526A>G	NP_001166939.1:p.Asn176Asp
NM_001315536.1:c.526A>G	NP_001302465.1:p.Asn176Asp
NR_033384.1:n.693A>G
NM_000925.4:c.580A>G MANE Select	NP_000916.2:p.Asn194Asp
NM_001173468.2:c.526A>G	NP_001166939.1:p.Asn176Asp
NM_001315536.2:c.526A>G	NP_001302465.1:p.Asn176Asp
NR_033384.2:n.686A>G