Canonical Allele Identifier: CA515486222

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 762639
• ClinVar RCV Id: RCV001166393 ; RCV001826985
• dbSNP Id: rs1329322647
• gnomAD v2: X-19375832-A-G
• gnomAD v3: X-19357714-A-G
• gnomAD v4: X-19357714-A-G
• MyVariant Identifiers: chrX:g.19375832A>G (hg19) ; chrX:g.19357714A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357714A>G , CM000685.2:g.19357714A>G	GRCh38
NC_000023.10:g.19375832A>G , CM000685.1:g.19375832A>G	GRCh37
NC_000023.9:g.19285753A>G	NCBI36
NG_016781.1:g.18822A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.915A>G	ENSP00000348062.6:p.Gly305=
ENST00000379805.4:c.*586A>G	ENSP00000369133.3:n.*586A>G
ENST00000417819.6:c.978A>G	ENSP00000404616.2:p.Gly326=
ENST00000423505.6:c.1008A>G	ENSP00000406473.2:p.Gly336=
ENST00000481733.2:n.689A>G
ENST00000696704.1:c.*226A>G	ENSP00000512823.1:n.*226A>G
ENST00000696705.1:c.*349A>G	ENSP00000512824.1:n.*349A>G
ENST00000422285.7:c.894A>G MANE Select	ENSP00000394382.2:p.Gly298=
ENST00000379804.1:c.51A>G	ENSP00000369132.1:p.Gly17=
ENST00000379806.9:c.1008A>G	ENSP00000369134.5:p.Gly336=
ENST00000422285.6:c.894A>G	ENSP00000394382.2:p.Gly298=
ENST00000478795.1:n.333A>G
ENST00000481733.1:n.322A>G
ENST00000540249.5:c.801A>G	ENSP00000440761.1:p.Gly267=
ENST00000545074.5:c.915A>G	ENSP00000438550.1:p.Gly305=
NM_000284.3:c.894A>G	NP_000275.1:p.Gly298=
NM_001173454.1:c.1008A>G	NP_001166925.1:p.Gly336=
NM_001173455.1:c.915A>G	NP_001166926.1:p.Gly305=
NM_001173456.1:c.801A>G	NP_001166927.1:p.Gly267=
XM_011545531.1:c.1029A>G	XP_011543833.1:p.Gly343=
XM_011545532.1:c.936A>G	XP_011543834.1:p.Gly312=
XM_017029574.2:c.915A>G	XP_016885063.1:p.Gly305=
NM_000284.4:c.894A>G MANE Select	NP_000275.1:p.Gly298=
NM_001173454.2:c.1008A>G	NP_001166925.1:p.Gly336=
NM_001173455.2:c.915A>G	NP_001166926.1:p.Gly305=
NM_001173456.2:c.801A>G	NP_001166927.1:p.Gly267=