Canonical Allele Identifier: CA412394482

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373527T>A (hg19) ; chrX:g.19355409T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355409T>A , CM000685.2:g.19355409T>A	GRCh38
NC_000023.10:g.19373527T>A , CM000685.1:g.19373527T>A	GRCh37
NC_000023.9:g.19283448T>A	NCBI36
NG_016781.1:g.16517T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.685T>A	ENSP00000348062.6:p.Cys229Ser
ENST00000379805.4:c.*356T>A	ENSP00000369133.3:n.*356T>A
ENST00000417819.6:c.748T>A	ENSP00000404616.2:p.Cys250Ser
ENST00000423505.6:c.778T>A	ENSP00000406473.2:p.Cys260Ser
ENST00000481733.2:n.459T>A
ENST00000696704.1:c.479T>A	ENSP00000512823.1:p.Leu160Gln
ENST00000696705.1:c.*119T>A	ENSP00000512824.1:n.*119T>A
ENST00000422285.7:c.664T>A MANE Select	ENSP00000394382.2:p.Cys222Ser
ENST00000379806.9:c.778T>A	ENSP00000369134.5:p.Cys260Ser
ENST00000422285.6:c.664T>A	ENSP00000394382.2:p.Cys222Ser
ENST00000479146.1:n.499T>A
ENST00000481733.1:n.92T>A
ENST00000540249.5:c.571T>A	ENSP00000440761.1:p.Cys191Ser
ENST00000545074.5:c.685T>A	ENSP00000438550.1:p.Cys229Ser
NM_000284.3:c.664T>A	NP_000275.1:p.Cys222Ser
NM_001173454.1:c.778T>A	NP_001166925.1:p.Cys260Ser
NM_001173455.1:c.685T>A	NP_001166926.1:p.Cys229Ser
NM_001173456.1:c.571T>A	NP_001166927.1:p.Cys191Ser
XM_011545531.1:c.799T>A	XP_011543833.1:p.Cys267Ser
XM_011545532.1:c.706T>A	XP_011543834.1:p.Cys236Ser
XM_017029574.2:c.685T>A	XP_016885063.1:p.Cys229Ser
NM_000284.4:c.664T>A MANE Select	NP_000275.1:p.Cys222Ser
NM_001173454.2:c.778T>A	NP_001166925.1:p.Cys260Ser
NM_001173455.2:c.685T>A	NP_001166926.1:p.Cys229Ser
NM_001173456.2:c.571T>A	NP_001166927.1:p.Cys191Ser