Canonical Allele Identifier: CA412394742

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373816G>T (hg19) ; chrX:g.19355698G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355698G>T , CM000685.2:g.19355698G>T	GRCh38
NC_000023.10:g.19373816G>T , CM000685.1:g.19373816G>T	GRCh37
NC_000023.9:g.19283737G>T	NCBI36
NG_016781.1:g.16806G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.793G>T	ENSP00000348062.6:p.Asp265Tyr
ENST00000379805.4:c.*464G>T	ENSP00000369133.3:n.*464G>T
ENST00000417819.6:c.856G>T	ENSP00000404616.2:p.Asp286Tyr
ENST00000423505.6:c.886G>T	ENSP00000406473.2:p.Asp296Tyr
ENST00000481733.2:n.567G>T
ENST00000696704.1:c.*104G>T	ENSP00000512823.1:n.*104G>T
ENST00000696705.1:c.*227G>T	ENSP00000512824.1:n.*227G>T
ENST00000422285.7:c.772G>T MANE Select	ENSP00000394382.2:p.Asp258Tyr
ENST00000379804.1:c.-72G>T	ENSP00000369132.1:n.-72G>T
ENST00000379806.9:c.886G>T	ENSP00000369134.5:p.Asp296Tyr
ENST00000422285.6:c.772G>T	ENSP00000394382.2:p.Asp258Tyr
ENST00000481733.1:n.200G>T
ENST00000540249.5:c.679G>T	ENSP00000440761.1:p.Asp227Tyr
ENST00000545074.5:c.793G>T	ENSP00000438550.1:p.Asp265Tyr
NM_000284.3:c.772G>T	NP_000275.1:p.Asp258Tyr
NM_001173454.1:c.886G>T	NP_001166925.1:p.Asp296Tyr
NM_001173455.1:c.793G>T	NP_001166926.1:p.Asp265Tyr
NM_001173456.1:c.679G>T	NP_001166927.1:p.Asp227Tyr
XM_011545531.1:c.907G>T	XP_011543833.1:p.Asp303Tyr
XM_011545532.1:c.814G>T	XP_011543834.1:p.Asp272Tyr
XM_017029574.2:c.793G>T	XP_016885063.1:p.Asp265Tyr
NM_000284.4:c.772G>T MANE Select	NP_000275.1:p.Asp258Tyr
NM_001173454.2:c.886G>T	NP_001166925.1:p.Asp296Tyr
NM_001173455.2:c.793G>T	NP_001166926.1:p.Asp265Tyr
NM_001173456.2:c.679G>T	NP_001166927.1:p.Asp227Tyr