Canonical Allele Identifier: CA412397209

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377743A>G (hg19) ; chrX:g.19359625A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359625A>G , CM000685.2:g.19359625A>G	GRCh38
NC_000023.10:g.19377743A>G , CM000685.1:g.19377743A>G	GRCh37
NC_000023.9:g.19287664A>G	NCBI36
NG_016781.1:g.20733A>G
NG_021184.1:g.160637T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1166A>G	ENSP00000348062.6:p.Gln389Arg
ENST00000379805.4:c.*837A>G	ENSP00000369133.3:n.*837A>G
ENST00000417819.6:c.1229A>G	ENSP00000404616.2:p.Gln410Arg
ENST00000423505.6:c.1259A>G	ENSP00000406473.2:p.Gln420Arg
ENST00000481733.2:n.940A>G
ENST00000696704.1:c.*477A>G	ENSP00000512823.1:n.*477A>G
ENST00000696705.1:c.*600A>G	ENSP00000512824.1:n.*600A>G
ENST00000422285.7:c.1145A>G MANE Select	ENSP00000394382.2:p.Gln382Arg
ENST00000379804.1:c.302A>G	ENSP00000369132.1:p.Gln101Arg
ENST00000379806.9:c.1259A>G	ENSP00000369134.5:p.Gln420Arg
ENST00000422285.6:c.1145A>G	ENSP00000394382.2:p.Gln382Arg
ENST00000478795.1:n.584A>G
ENST00000540249.5:c.1052A>G	ENSP00000440761.1:p.Gln351Arg
ENST00000545074.5:c.1166A>G	ENSP00000438550.1:p.Gln389Arg
NM_000284.3:c.1145A>G	NP_000275.1:p.Gln382Arg
NM_001173454.1:c.1259A>G	NP_001166925.1:p.Gln420Arg
NM_001173455.1:c.1166A>G	NP_001166926.1:p.Gln389Arg
NM_001173456.1:c.1052A>G	NP_001166927.1:p.Gln351Arg
XM_011545531.1:c.1280A>G	XP_011543833.1:p.Gln427Arg
XM_011545532.1:c.1187A>G	XP_011543834.1:p.Gln396Arg
XM_017029574.2:c.1166A>G	XP_016885063.1:p.Gln389Arg
NM_000284.4:c.1145A>G MANE Select	NP_000275.1:p.Gln382Arg
NM_001173454.2:c.1259A>G	NP_001166925.1:p.Gln420Arg
NM_001173455.2:c.1166A>G	NP_001166926.1:p.Gln389Arg
NM_001173456.2:c.1052A>G	NP_001166927.1:p.Gln351Arg