Canonical Allele Identifier: CA412394461

Gene: PDHA1

Linked Data

• dbSNP Id: rs2147180784
• MyVariant Identifiers: chrX:g.19373518A>G (hg19) ; chrX:g.19355400A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355400A>G , CM000685.2:g.19355400A>G	GRCh38
NC_000023.10:g.19373518A>G , CM000685.1:g.19373518A>G	GRCh37
NC_000023.9:g.19283439A>G	NCBI36
NG_016781.1:g.16508A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.676A>G	ENSP00000348062.6:p.Ile226Val
ENST00000379805.4:c.*347A>G	ENSP00000369133.3:n.*347A>G
ENST00000417819.6:c.739A>G	ENSP00000404616.2:p.Ile247Val
ENST00000423505.6:c.769A>G	ENSP00000406473.2:p.Ile257Val
ENST00000481733.2:n.450A>G
ENST00000696704.1:c.470A>G	ENSP00000512823.1:p.Tyr157Cys
ENST00000696705.1:c.*110A>G	ENSP00000512824.1:n.*110A>G
ENST00000422285.7:c.655A>G MANE Select	ENSP00000394382.2:p.Ile219Val
ENST00000379806.9:c.769A>G	ENSP00000369134.5:p.Ile257Val
ENST00000422285.6:c.655A>G	ENSP00000394382.2:p.Ile219Val
ENST00000479146.1:n.490A>G
ENST00000481733.1:n.83A>G
ENST00000540249.5:c.562A>G	ENSP00000440761.1:p.Ile188Val
ENST00000545074.5:c.676A>G	ENSP00000438550.1:p.Ile226Val
NM_000284.3:c.655A>G	NP_000275.1:p.Ile219Val
NM_001173454.1:c.769A>G	NP_001166925.1:p.Ile257Val
NM_001173455.1:c.676A>G	NP_001166926.1:p.Ile226Val
NM_001173456.1:c.562A>G	NP_001166927.1:p.Ile188Val
XM_011545531.1:c.790A>G	XP_011543833.1:p.Ile264Val
XM_011545532.1:c.697A>G	XP_011543834.1:p.Ile233Val
XM_017029574.2:c.676A>G	XP_016885063.1:p.Ile226Val
NM_000284.4:c.655A>G MANE Select	NP_000275.1:p.Ile219Val
NM_001173454.2:c.769A>G	NP_001166925.1:p.Ile257Val
NM_001173455.2:c.676A>G	NP_001166926.1:p.Ile226Val
NM_001173456.2:c.562A>G	NP_001166927.1:p.Ile188Val