Canonical Allele Identifier: CA412394526

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373544T>A (hg19) ; chrX:g.19355426T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355426T>A , CM000685.2:g.19355426T>A	GRCh38
NC_000023.10:g.19373544T>A , CM000685.1:g.19373544T>A	GRCh37
NC_000023.9:g.19283465T>A	NCBI36
NG_016781.1:g.16534T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.702T>A	ENSP00000348062.6:p.Tyr234Ter
ENST00000379805.4:c.*373T>A	ENSP00000369133.3:n.*373T>A
ENST00000417819.6:c.765T>A	ENSP00000404616.2:p.Tyr255Ter
ENST00000423505.6:c.795T>A	ENSP00000406473.2:p.Tyr265Ter
ENST00000481733.2:n.476T>A
ENST00000696704.1:c.*13T>A	ENSP00000512823.1:n.*13T>A
ENST00000696705.1:c.*136T>A	ENSP00000512824.1:n.*136T>A
ENST00000422285.7:c.681T>A MANE Select	ENSP00000394382.2:p.Tyr227Ter
ENST00000379806.9:c.795T>A	ENSP00000369134.5:p.Tyr265Ter
ENST00000422285.6:c.681T>A	ENSP00000394382.2:p.Tyr227Ter
ENST00000479146.1:n.516T>A
ENST00000481733.1:n.109T>A
ENST00000540249.5:c.588T>A	ENSP00000440761.1:p.Tyr196Ter
ENST00000545074.5:c.702T>A	ENSP00000438550.1:p.Tyr234Ter
NM_000284.3:c.681T>A	NP_000275.1:p.Tyr227Ter
NM_001173454.1:c.795T>A	NP_001166925.1:p.Tyr265Ter
NM_001173455.1:c.702T>A	NP_001166926.1:p.Tyr234Ter
NM_001173456.1:c.588T>A	NP_001166927.1:p.Tyr196Ter
XM_011545531.1:c.816T>A	XP_011543833.1:p.Tyr272Ter
XM_011545532.1:c.723T>A	XP_011543834.1:p.Tyr241Ter
XM_017029574.2:c.702T>A	XP_016885063.1:p.Tyr234Ter
NM_000284.4:c.681T>A MANE Select	NP_000275.1:p.Tyr227Ter
NM_001173454.2:c.795T>A	NP_001166925.1:p.Tyr265Ter
NM_001173455.2:c.702T>A	NP_001166926.1:p.Tyr234Ter
NM_001173456.2:c.588T>A	NP_001166927.1:p.Tyr196Ter