Canonical Allele Identifier: CA412394695

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373620A>G (hg19) ; chrX:g.19355502A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355502A>G , CM000685.2:g.19355502A>G	GRCh38
NC_000023.10:g.19373620A>G , CM000685.1:g.19373620A>G	GRCh37
NC_000023.9:g.19283541A>G	NCBI36
NG_016781.1:g.16610A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.778A>G	ENSP00000348062.6:p.Arg260Gly
ENST00000379805.4:c.*449A>G	ENSP00000369133.3:n.*449A>G
ENST00000417819.6:c.841A>G	ENSP00000404616.2:p.Arg281Gly
ENST00000423505.6:c.871A>G	ENSP00000406473.2:p.Arg291Gly
ENST00000481733.2:n.552A>G
ENST00000696704.1:c.*89A>G	ENSP00000512823.1:n.*89A>G
ENST00000696705.1:c.*212A>G	ENSP00000512824.1:n.*212A>G
ENST00000422285.7:c.757A>G MANE Select	ENSP00000394382.2:p.Arg253Gly
ENST00000379806.9:c.871A>G	ENSP00000369134.5:p.Arg291Gly
ENST00000422285.6:c.757A>G	ENSP00000394382.2:p.Arg253Gly
ENST00000481733.1:n.185A>G
ENST00000540249.5:c.664A>G	ENSP00000440761.1:p.Arg222Gly
ENST00000545074.5:c.778A>G	ENSP00000438550.1:p.Arg260Gly
NM_000284.3:c.757A>G	NP_000275.1:p.Arg253Gly
NM_001173454.1:c.871A>G	NP_001166925.1:p.Arg291Gly
NM_001173455.1:c.778A>G	NP_001166926.1:p.Arg260Gly
NM_001173456.1:c.664A>G	NP_001166927.1:p.Arg222Gly
XM_011545531.1:c.892A>G	XP_011543833.1:p.Arg298Gly
XM_011545532.1:c.799A>G	XP_011543834.1:p.Arg267Gly
XM_017029574.2:c.778A>G	XP_016885063.1:p.Arg260Gly
NM_000284.4:c.757A>G MANE Select	NP_000275.1:p.Arg253Gly
NM_001173454.2:c.871A>G	NP_001166925.1:p.Arg291Gly
NM_001173455.2:c.778A>G	NP_001166926.1:p.Arg260Gly
NM_001173456.2:c.664A>G	NP_001166927.1:p.Arg222Gly