Canonical Allele Identifier: CA412396593

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377659C>G (hg19) ; chrX:g.19359541C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359541C>G , CM000685.2:g.19359541C>G	GRCh38
NC_000023.10:g.19377659C>G , CM000685.1:g.19377659C>G	GRCh37
NC_000023.9:g.19287580C>G	NCBI36
NG_016781.1:g.20649C>G
NG_021184.1:g.160721G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1082C>G	ENSP00000348062.6:p.Thr361Arg
ENST00000379805.4:c.*753C>G	ENSP00000369133.3:n.*753C>G
ENST00000417819.6:c.1145C>G	ENSP00000404616.2:p.Thr382Arg
ENST00000423505.6:c.1175C>G	ENSP00000406473.2:p.Thr392Arg
ENST00000481733.2:n.856C>G
ENST00000696704.1:c.*393C>G	ENSP00000512823.1:n.*393C>G
ENST00000696705.1:c.*516C>G	ENSP00000512824.1:n.*516C>G
ENST00000422285.7:c.1061C>G MANE Select	ENSP00000394382.2:p.Thr354Arg
ENST00000379804.1:c.218C>G	ENSP00000369132.1:p.Thr73Arg
ENST00000379806.9:c.1175C>G	ENSP00000369134.5:p.Thr392Arg
ENST00000422285.6:c.1061C>G	ENSP00000394382.2:p.Thr354Arg
ENST00000478795.1:n.500C>G
ENST00000540249.5:c.968C>G	ENSP00000440761.1:p.Thr323Arg
ENST00000545074.5:c.1082C>G	ENSP00000438550.1:p.Thr361Arg
NM_000284.3:c.1061C>G	NP_000275.1:p.Thr354Arg
NM_001173454.1:c.1175C>G	NP_001166925.1:p.Thr392Arg
NM_001173455.1:c.1082C>G	NP_001166926.1:p.Thr361Arg
NM_001173456.1:c.968C>G	NP_001166927.1:p.Thr323Arg
XM_011545531.1:c.1196C>G	XP_011543833.1:p.Thr399Arg
XM_011545532.1:c.1103C>G	XP_011543834.1:p.Thr368Arg
XM_017029574.2:c.1082C>G	XP_016885063.1:p.Thr361Arg
NM_000284.4:c.1061C>G MANE Select	NP_000275.1:p.Thr354Arg
NM_001173454.2:c.1175C>G	NP_001166925.1:p.Thr392Arg
NM_001173455.2:c.1082C>G	NP_001166926.1:p.Thr361Arg
NM_001173456.2:c.968C>G	NP_001166927.1:p.Thr323Arg