Canonical Allele Identifier: CA412394663

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373604T>G (hg19) ; chrX:g.19355486T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355486T>G , CM000685.2:g.19355486T>G	GRCh38
NC_000023.10:g.19373604T>G , CM000685.1:g.19373604T>G	GRCh37
NC_000023.9:g.19283525T>G	NCBI36
NG_016781.1:g.16594T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.762T>G	ENSP00000348062.6:p.Asp254Glu
ENST00000379805.4:c.*433T>G	ENSP00000369133.3:n.*433T>G
ENST00000417819.6:c.825T>G	ENSP00000404616.2:p.Asp275Glu
ENST00000423505.6:c.855T>G	ENSP00000406473.2:p.Asp285Glu
ENST00000481733.2:n.536T>G
ENST00000696704.1:c.*73T>G	ENSP00000512823.1:n.*73T>G
ENST00000696705.1:c.*196T>G	ENSP00000512824.1:n.*196T>G
ENST00000422285.7:c.741T>G MANE Select	ENSP00000394382.2:p.Asp247Glu
ENST00000379806.9:c.855T>G	ENSP00000369134.5:p.Asp285Glu
ENST00000422285.6:c.741T>G	ENSP00000394382.2:p.Asp247Glu
ENST00000481733.1:n.169T>G
ENST00000540249.5:c.648T>G	ENSP00000440761.1:p.Asp216Glu
ENST00000545074.5:c.762T>G	ENSP00000438550.1:p.Asp254Glu
NM_000284.3:c.741T>G	NP_000275.1:p.Asp247Glu
NM_001173454.1:c.855T>G	NP_001166925.1:p.Asp285Glu
NM_001173455.1:c.762T>G	NP_001166926.1:p.Asp254Glu
NM_001173456.1:c.648T>G	NP_001166927.1:p.Asp216Glu
XM_011545531.1:c.876T>G	XP_011543833.1:p.Asp292Glu
XM_011545532.1:c.783T>G	XP_011543834.1:p.Asp261Glu
XM_017029574.2:c.762T>G	XP_016885063.1:p.Asp254Glu
NM_000284.4:c.741T>G MANE Select	NP_000275.1:p.Asp247Glu
NM_001173454.2:c.855T>G	NP_001166925.1:p.Asp285Glu
NM_001173455.2:c.762T>G	NP_001166926.1:p.Asp254Glu
NM_001173456.2:c.648T>G	NP_001166927.1:p.Asp216Glu