Canonical Allele Identifier: CA412394631

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 1252070
• ClinVar RCV Id: RCV001844384
• dbSNP Id: rs2147180935
• MyVariant Identifiers: chrX:g.19373591A>G (hg19) ; chrX:g.19355473A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355473A>G , CM000685.2:g.19355473A>G	GRCh38
NC_000023.10:g.19373591A>G , CM000685.1:g.19373591A>G	GRCh37
NC_000023.9:g.19283512A>G	NCBI36
NG_016781.1:g.16581A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.749A>G	ENSP00000348062.6:p.Tyr250Cys
ENST00000379805.4:c.*420A>G	ENSP00000369133.3:n.*420A>G
ENST00000417819.6:c.812A>G	ENSP00000404616.2:p.Tyr271Cys
ENST00000423505.6:c.842A>G	ENSP00000406473.2:p.Tyr281Cys
ENST00000481733.2:n.523A>G
ENST00000696704.1:c.*60A>G	ENSP00000512823.1:n.*60A>G
ENST00000696705.1:c.*183A>G	ENSP00000512824.1:n.*183A>G
ENST00000422285.7:c.728A>G MANE Select	ENSP00000394382.2:p.Tyr243Cys
ENST00000379806.9:c.842A>G	ENSP00000369134.5:p.Tyr281Cys
ENST00000422285.6:c.728A>G	ENSP00000394382.2:p.Tyr243Cys
ENST00000481733.1:n.156A>G
ENST00000540249.5:c.635A>G	ENSP00000440761.1:p.Tyr212Cys
ENST00000545074.5:c.749A>G	ENSP00000438550.1:p.Tyr250Cys
NM_000284.3:c.728A>G	NP_000275.1:p.Tyr243Cys
NM_001173454.1:c.842A>G	NP_001166925.1:p.Tyr281Cys
NM_001173455.1:c.749A>G	NP_001166926.1:p.Tyr250Cys
NM_001173456.1:c.635A>G	NP_001166927.1:p.Tyr212Cys
XM_011545531.1:c.863A>G	XP_011543833.1:p.Tyr288Cys
XM_011545532.1:c.770A>G	XP_011543834.1:p.Tyr257Cys
XM_017029574.2:c.749A>G	XP_016885063.1:p.Tyr250Cys
NM_000284.4:c.728A>G MANE Select	NP_000275.1:p.Tyr243Cys
NM_001173454.2:c.842A>G	NP_001166925.1:p.Tyr281Cys
NM_001173455.2:c.749A>G	NP_001166926.1:p.Tyr250Cys
NM_001173456.2:c.635A>G	NP_001166927.1:p.Tyr212Cys