Canonical Allele Identifier: CA515486183

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375802T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357684T>G , CM000685.2:g.19357684T>G	GRCh38
NC_000023.10:g.19375802T>G , CM000685.1:g.19375802T>G	GRCh37
NC_000023.9:g.19285723T>G	NCBI36
NG_016781.1:g.18792T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.885T>G	ENSP00000348062.6:p.Arg295=
ENST00000379805.4:c.*556T>G	ENSP00000369133.3:n.*556T>G
ENST00000417819.6:c.948T>G	ENSP00000404616.2:p.Arg316=
ENST00000423505.6:c.978T>G	ENSP00000406473.2:p.Arg326=
ENST00000481733.2:n.659T>G
ENST00000696704.1:c.*196T>G	ENSP00000512823.1:n.*196T>G
ENST00000696705.1:c.*319T>G	ENSP00000512824.1:n.*319T>G
ENST00000422285.7:c.864T>G MANE Select	ENSP00000394382.2:p.Arg288=
ENST00000379804.1:c.21T>G	ENSP00000369132.1:p.Arg7=
ENST00000379806.9:c.978T>G	ENSP00000369134.5:p.Arg326=
ENST00000422285.6:c.864T>G	ENSP00000394382.2:p.Arg288=
ENST00000478795.1:n.303T>G
ENST00000481733.1:n.292T>G
ENST00000540249.5:c.771T>G	ENSP00000440761.1:p.Arg257=
ENST00000545074.5:c.885T>G	ENSP00000438550.1:p.Arg295=
NM_000284.3:c.864T>G	NP_000275.1:p.Arg288=
NM_001173454.1:c.978T>G	NP_001166925.1:p.Arg326=
NM_001173455.1:c.885T>G	NP_001166926.1:p.Arg295=
NM_001173456.1:c.771T>G	NP_001166927.1:p.Arg257=
XM_011545531.1:c.999T>G	XP_011543833.1:p.Arg333=
XM_011545532.1:c.906T>G	XP_011543834.1:p.Arg302=
XM_017029574.2:c.885T>G	XP_016885063.1:p.Arg295=
NM_000284.4:c.864T>G MANE Select	NP_000275.1:p.Arg288=
NM_001173454.2:c.978T>G	NP_001166925.1:p.Arg326=
NM_001173455.2:c.885T>G	NP_001166926.1:p.Arg295=
NM_001173456.2:c.771T>G	NP_001166927.1:p.Arg257=