Canonical Allele Identifier: CA412394830

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373858T>C (hg19) ; chrX:g.19355740T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355740T>C , CM000685.2:g.19355740T>C	GRCh38
NC_000023.10:g.19373858T>C , CM000685.1:g.19373858T>C	GRCh37
NC_000023.9:g.19283779T>C	NCBI36
NG_016781.1:g.16848T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.835T>C	ENSP00000348062.6:p.Tyr279His
ENST00000379805.4:c.*506T>C	ENSP00000369133.3:n.*506T>C
ENST00000417819.6:c.898T>C	ENSP00000404616.2:p.Tyr300His
ENST00000423505.6:c.928T>C	ENSP00000406473.2:p.Tyr310His
ENST00000481733.2:n.609T>C
ENST00000696704.1:c.*146T>C	ENSP00000512823.1:n.*146T>C
ENST00000696705.1:c.*269T>C	ENSP00000512824.1:n.*269T>C
ENST00000422285.7:c.814T>C MANE Select	ENSP00000394382.2:p.Tyr272His
ENST00000379804.1:c.-30T>C	ENSP00000369132.1:n.-30T>C
ENST00000379806.9:c.928T>C	ENSP00000369134.5:p.Tyr310His
ENST00000422285.6:c.814T>C	ENSP00000394382.2:p.Tyr272His
ENST00000481733.1:n.242T>C
ENST00000540249.5:c.721T>C	ENSP00000440761.1:p.Tyr241His
ENST00000545074.5:c.835T>C	ENSP00000438550.1:p.Tyr279His
NM_000284.3:c.814T>C	NP_000275.1:p.Tyr272His
NM_001173454.1:c.928T>C	NP_001166925.1:p.Tyr310His
NM_001173455.1:c.835T>C	NP_001166926.1:p.Tyr279His
NM_001173456.1:c.721T>C	NP_001166927.1:p.Tyr241His
XM_011545531.1:c.949T>C	XP_011543833.1:p.Tyr317His
XM_011545532.1:c.856T>C	XP_011543834.1:p.Tyr286His
XM_017029574.2:c.835T>C	XP_016885063.1:p.Tyr279His
NM_000284.4:c.814T>C MANE Select	NP_000275.1:p.Tyr272His
NM_001173454.2:c.928T>C	NP_001166925.1:p.Tyr310His
NM_001173455.2:c.835T>C	NP_001166926.1:p.Tyr279His
NM_001173456.2:c.721T>C	NP_001166927.1:p.Tyr241His