Canonical Allele Identifier: CA515486153

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375781G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357663G>A , CM000685.2:g.19357663G>A	GRCh38
NC_000023.10:g.19375781G>A , CM000685.1:g.19375781G>A	GRCh37
NC_000023.9:g.19285702G>A	NCBI36
NG_016781.1:g.18771G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.864G>A	ENSP00000348062.6:p.Leu288=
ENST00000379805.4:c.*535G>A	ENSP00000369133.3:n.*535G>A
ENST00000417819.6:c.927G>A	ENSP00000404616.2:p.Leu309=
ENST00000423505.6:c.957G>A	ENSP00000406473.2:p.Leu319=
ENST00000481733.2:n.638G>A
ENST00000696704.1:c.*175G>A	ENSP00000512823.1:n.*175G>A
ENST00000696705.1:c.*298G>A	ENSP00000512824.1:n.*298G>A
ENST00000422285.7:c.843G>A MANE Select	ENSP00000394382.2:p.Leu281=
ENST00000379804.1:c.-1G>A	ENSP00000369132.1:n.-1G>A
ENST00000379806.9:c.957G>A	ENSP00000369134.5:p.Leu319=
ENST00000422285.6:c.843G>A	ENSP00000394382.2:p.Leu281=
ENST00000478795.1:n.282G>A
ENST00000481733.1:n.271G>A
ENST00000540249.5:c.750G>A	ENSP00000440761.1:p.Leu250=
ENST00000545074.5:c.864G>A	ENSP00000438550.1:p.Leu288=
NM_000284.3:c.843G>A	NP_000275.1:p.Leu281=
NM_001173454.1:c.957G>A	NP_001166925.1:p.Leu319=
NM_001173455.1:c.864G>A	NP_001166926.1:p.Leu288=
NM_001173456.1:c.750G>A	NP_001166927.1:p.Leu250=
XM_011545531.1:c.978G>A	XP_011543833.1:p.Leu326=
XM_011545532.1:c.885G>A	XP_011543834.1:p.Leu295=
XM_017029574.2:c.864G>A	XP_016885063.1:p.Leu288=
NM_000284.4:c.843G>A MANE Select	NP_000275.1:p.Leu281=
NM_001173454.2:c.957G>A	NP_001166925.1:p.Leu319=
NM_001173455.2:c.864G>A	NP_001166926.1:p.Leu288=
NM_001173456.2:c.750G>A	NP_001166927.1:p.Leu250=