Canonical Allele Identifier: CA412393934

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 488570
• ClinVar RCV Id: RCV000578439
• dbSNP Id: rs1555934165
• MyVariant Identifiers: chrX:g.19372634T>G (hg19) ; chrX:g.19354516T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19354516T>G , CM000685.2:g.19354516T>G	GRCh38
NC_000023.10:g.19372634T>G , CM000685.1:g.19372634T>G	GRCh37
NC_000023.9:g.19282555T>G	NCBI36
NG_016781.1:g.15624T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.557T>G	ENSP00000348062.6:p.Leu186Arg
ENST00000379805.4:c.*228T>G	ENSP00000369133.3:n.*228T>G
ENST00000417819.6:c.620T>G	ENSP00000404616.2:p.Leu207Arg
ENST00000423505.6:c.650T>G	ENSP00000406473.2:p.Leu217Arg
ENST00000696704.1:c.419-833T>G	ENSP00000512823.1:n.419-833T>G
ENST00000696705.1:c.444T>G	ENSP00000512824.1:p.Ser148=
ENST00000422285.7:c.536T>G MANE Select	ENSP00000394382.2:p.Leu179Arg
ENST00000355808.9:c.557T>G	ENSP00000348062.5:p.Leu186Arg
ENST00000379806.9:c.650T>G	ENSP00000369134.5:p.Leu217Arg
ENST00000422285.6:c.536T>G	ENSP00000394382.2:p.Leu179Arg
ENST00000479146.1:n.371T>G
ENST00000540249.5:c.511-833T>G	ENSP00000440761.1:n.511-833T>G
ENST00000545074.5:c.557T>G	ENSP00000438550.1:p.Leu186Arg
NM_000284.3:c.536T>G	NP_000275.1:p.Leu179Arg
NM_001173454.1:c.650T>G	NP_001166925.1:p.Leu217Arg
NM_001173455.1:c.557T>G	NP_001166926.1:p.Leu186Arg
NM_001173456.1:c.511-833T>G	NP_001166927.1:n.511-833T>G
XM_011545531.1:c.671T>G	XP_011543833.1:p.Leu224Arg
XM_011545532.1:c.646-833T>G	XP_011543834.1:n.646-833T>G
XM_017029574.2:c.625-833T>G	XP_016885063.1:n.625-833T>G
NM_000284.4:c.536T>G MANE Select	NP_000275.1:p.Leu179Arg
NM_001173454.2:c.650T>G	NP_001166925.1:p.Leu217Arg
NM_001173455.2:c.557T>G	NP_001166926.1:p.Leu186Arg
NM_001173456.2:c.511-833T>G	NP_001166927.1:n.511-833T>G