Canonical Allele Identifier: CA412394515

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373539C>G (hg19) ; chrX:g.19355421C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355421C>G , CM000685.2:g.19355421C>G	GRCh38
NC_000023.10:g.19373539C>G , CM000685.1:g.19373539C>G	GRCh37
NC_000023.9:g.19283460C>G	NCBI36
NG_016781.1:g.16529C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.697C>G	ENSP00000348062.6:p.Arg233Gly
ENST00000379805.4:c.*368C>G	ENSP00000369133.3:n.*368C>G
ENST00000417819.6:c.760C>G	ENSP00000404616.2:p.Arg254Gly
ENST00000423505.6:c.790C>G	ENSP00000406473.2:p.Arg264Gly
ENST00000481733.2:n.471C>G
ENST00000696704.1:c.*8C>G	ENSP00000512823.1:n.*8C>G
ENST00000696705.1:c.*131C>G	ENSP00000512824.1:n.*131C>G
ENST00000422285.7:c.676C>G MANE Select	ENSP00000394382.2:p.Arg226Gly
ENST00000379806.9:c.790C>G	ENSP00000369134.5:p.Arg264Gly
ENST00000422285.6:c.676C>G	ENSP00000394382.2:p.Arg226Gly
ENST00000479146.1:n.511C>G
ENST00000481733.1:n.104C>G
ENST00000540249.5:c.583C>G	ENSP00000440761.1:p.Arg195Gly
ENST00000545074.5:c.697C>G	ENSP00000438550.1:p.Arg233Gly
NM_000284.3:c.676C>G	NP_000275.1:p.Arg226Gly
NM_001173454.1:c.790C>G	NP_001166925.1:p.Arg264Gly
NM_001173455.1:c.697C>G	NP_001166926.1:p.Arg233Gly
NM_001173456.1:c.583C>G	NP_001166927.1:p.Arg195Gly
XM_011545531.1:c.811C>G	XP_011543833.1:p.Arg271Gly
XM_011545532.1:c.718C>G	XP_011543834.1:p.Arg240Gly
XM_017029574.2:c.697C>G	XP_016885063.1:p.Arg233Gly
NM_000284.4:c.676C>G MANE Select	NP_000275.1:p.Arg226Gly
NM_001173454.2:c.790C>G	NP_001166925.1:p.Arg264Gly
NM_001173455.2:c.697C>G	NP_001166926.1:p.Arg233Gly
NM_001173456.2:c.583C>G	NP_001166927.1:p.Arg195Gly