Canonical Allele Identifier: CA412395176

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375789T>G (hg19) ; chrX:g.19357671T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357671T>G , CM000685.2:g.19357671T>G	GRCh38
NC_000023.10:g.19375789T>G , CM000685.1:g.19375789T>G	GRCh37
NC_000023.9:g.19285710T>G	NCBI36
NG_016781.1:g.18779T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.872T>G	ENSP00000348062.6:p.Leu291Arg
ENST00000379805.4:c.*543T>G	ENSP00000369133.3:n.*543T>G
ENST00000417819.6:c.935T>G	ENSP00000404616.2:p.Leu312Arg
ENST00000423505.6:c.965T>G	ENSP00000406473.2:p.Leu322Arg
ENST00000481733.2:n.646T>G
ENST00000696704.1:c.*183T>G	ENSP00000512823.1:n.*183T>G
ENST00000696705.1:c.*306T>G	ENSP00000512824.1:n.*306T>G
ENST00000422285.7:c.851T>G MANE Select	ENSP00000394382.2:p.Leu284Arg
ENST00000379804.1:c.8T>G	ENSP00000369132.1:p.Leu3Arg
ENST00000379806.9:c.965T>G	ENSP00000369134.5:p.Leu322Arg
ENST00000422285.6:c.851T>G	ENSP00000394382.2:p.Leu284Arg
ENST00000478795.1:n.290T>G
ENST00000481733.1:n.279T>G
ENST00000540249.5:c.758T>G	ENSP00000440761.1:p.Leu253Arg
ENST00000545074.5:c.872T>G	ENSP00000438550.1:p.Leu291Arg
NM_000284.3:c.851T>G	NP_000275.1:p.Leu284Arg
NM_001173454.1:c.965T>G	NP_001166925.1:p.Leu322Arg
NM_001173455.1:c.872T>G	NP_001166926.1:p.Leu291Arg
NM_001173456.1:c.758T>G	NP_001166927.1:p.Leu253Arg
XM_011545531.1:c.986T>G	XP_011543833.1:p.Leu329Arg
XM_011545532.1:c.893T>G	XP_011543834.1:p.Leu298Arg
XM_017029574.2:c.872T>G	XP_016885063.1:p.Leu291Arg
NM_000284.4:c.851T>G MANE Select	NP_000275.1:p.Leu284Arg
NM_001173454.2:c.965T>G	NP_001166925.1:p.Leu322Arg
NM_001173455.2:c.872T>G	NP_001166926.1:p.Leu291Arg
NM_001173456.2:c.758T>G	NP_001166927.1:p.Leu253Arg