Canonical Allele Identifier: CA353356667

Gene: PDHB

Linked Data

• MyVariant Identifiers: chr3:g.58413806C>A (hg19) ; chr3:g.58428079C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58428079C>A , CM000665.2:g.58428079C>A	GRCh38
NC_000003.11:g.58413806C>A , CM000665.1:g.58413806C>A	GRCh37
NC_000003.10:g.58388846C>A	NCBI36
NG_016860.1:g.10774G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.1035G>T MANE Select	ENSP00000307241.6:p.Gln345His
ENST00000302746.10:c.1035G>T	ENSP00000307241.6:p.Gln345His
ENST00000383714.8:c.981G>T	ENSP00000373220.4:p.Gln327His
ENST00000461692.5:n.1148G>T
ENST00000469364.5:c.*421G>T	ENSP00000419580.1:n.*421G>T
ENST00000474765.1:c.*49G>T	ENSP00000418448.1:n.*49G>T
ENST00000479945.1:n.4061G>T
ENST00000485460.5:c.981G>T	ENSP00000417267.1:p.Gln327His
NM_000925.3:c.1035G>T	NP_000916.2:p.Gln345His
NM_001173468.1:c.981G>T	NP_001166939.1:p.Gln327His
NM_001315536.1:c.981G>T	NP_001302465.1:p.Gln327His
NR_033384.1:n.1148G>T
NM_000925.4:c.1035G>T MANE Select	NP_000916.2:p.Gln345His
NM_001173468.2:c.981G>T	NP_001166939.1:p.Gln327His
NM_001315536.2:c.981G>T	NP_001302465.1:p.Gln327His
NR_033384.2:n.1141G>T