Canonical Allele Identifier: CA412393167

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19371232G>C (hg19) ; chrX:g.19353114G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19353114G>C , CM000685.2:g.19353114G>C	GRCh38
NC_000023.10:g.19371232G>C , CM000685.1:g.19371232G>C	GRCh37
NC_000023.9:g.19281153G>C	NCBI36
NG_016781.1:g.14222G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.472G>C	ENSP00000348062.6:p.Gly158Arg
ENST00000379805.4:c.451G>C	ENSP00000369133.3:p.Gly151Arg
ENST00000417819.6:c.535G>C	ENSP00000404616.2:p.Gly179Arg
ENST00000423505.6:c.565G>C	ENSP00000406473.2:p.Gly189Arg
ENST00000696704.1:c.418+1707G>C	ENSP00000512823.1:n.418+1707G>C
ENST00000696705.1:c.419-1377G>C	ENSP00000512824.1:n.419-1377G>C
ENST00000422285.7:c.451G>C MANE Select	ENSP00000394382.2:p.Gly151Arg
ENST00000355808.9:c.472G>C	ENSP00000348062.5:p.Gly158Arg
ENST00000379805.3:c.451G>C	ENSP00000369133.3:p.Gly151Arg
ENST00000379806.9:c.565G>C	ENSP00000369134.5:p.Gly189Arg
ENST00000422285.6:c.451G>C	ENSP00000394382.2:p.Gly151Arg
ENST00000423505.5:c.565G>C	ENSP00000406473.1:p.Gly189Arg
ENST00000479146.1:n.286G>C
ENST00000540249.5:c.451G>C	ENSP00000440761.1:p.Gly151Arg
ENST00000545074.5:c.472G>C	ENSP00000438550.1:p.Gly158Arg
NM_000284.3:c.451G>C	NP_000275.1:p.Gly151Arg
NM_001173454.1:c.565G>C	NP_001166925.1:p.Gly189Arg
NM_001173455.1:c.472G>C	NP_001166926.1:p.Gly158Arg
NM_001173456.1:c.451G>C	NP_001166927.1:p.Gly151Arg
XM_011545531.1:c.586G>C	XP_011543833.1:p.Gly196Arg
XM_011545532.1:c.586G>C	XP_011543834.1:p.Gly196Arg
XM_017029574.2:c.565G>C	XP_016885063.1:p.Gly189Arg
NM_000284.4:c.451G>C MANE Select	NP_000275.1:p.Gly151Arg
NM_001173454.2:c.565G>C	NP_001166925.1:p.Gly189Arg
NM_001173455.2:c.472G>C	NP_001166926.1:p.Gly158Arg
NM_001173456.2:c.451G>C	NP_001166927.1:p.Gly151Arg