Canonical Allele Identifier: CA412394541

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 860913
• ClinVar RCV Id: RCV001067311
• dbSNP Id: rs2063189233
• MyVariant Identifiers: chrX:g.19373550G>C (hg19) ; chrX:g.19355432G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355432G>C , CM000685.2:g.19355432G>C	GRCh38
NC_000023.10:g.19373550G>C , CM000685.1:g.19373550G>C	GRCh37
NC_000023.9:g.19283471G>C	NCBI36
NG_016781.1:g.16540G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.708G>C	ENSP00000348062.6:p.Met236Ile
ENST00000379805.4:c.*379G>C	ENSP00000369133.3:n.*379G>C
ENST00000417819.6:c.771G>C	ENSP00000404616.2:p.Met257Ile
ENST00000423505.6:c.801G>C	ENSP00000406473.2:p.Met267Ile
ENST00000481733.2:n.482G>C
ENST00000696704.1:c.*19G>C	ENSP00000512823.1:n.*19G>C
ENST00000696705.1:c.*142G>C	ENSP00000512824.1:n.*142G>C
ENST00000422285.7:c.687G>C MANE Select	ENSP00000394382.2:p.Met229Ile
ENST00000379806.9:c.801G>C	ENSP00000369134.5:p.Met267Ile
ENST00000422285.6:c.687G>C	ENSP00000394382.2:p.Met229Ile
ENST00000479146.1:n.522G>C
ENST00000481733.1:n.115G>C
ENST00000540249.5:c.594G>C	ENSP00000440761.1:p.Met198Ile
ENST00000545074.5:c.708G>C	ENSP00000438550.1:p.Met236Ile
NM_000284.3:c.687G>C	NP_000275.1:p.Met229Ile
NM_001173454.1:c.801G>C	NP_001166925.1:p.Met267Ile
NM_001173455.1:c.708G>C	NP_001166926.1:p.Met236Ile
NM_001173456.1:c.594G>C	NP_001166927.1:p.Met198Ile
XM_011545531.1:c.822G>C	XP_011543833.1:p.Met274Ile
XM_011545532.1:c.729G>C	XP_011543834.1:p.Met243Ile
XM_017029574.2:c.708G>C	XP_016885063.1:p.Met236Ile
NM_000284.4:c.687G>C MANE Select	NP_000275.1:p.Met229Ile
NM_001173454.2:c.801G>C	NP_001166925.1:p.Met267Ile
NM_001173455.2:c.708G>C	NP_001166926.1:p.Met236Ile
NM_001173456.2:c.594G>C	NP_001166927.1:p.Met198Ile