Canonical Allele Identifier: CA412394264

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 2795237
• ClinVar RCV Id: RCV003621954
• MyVariant Identifiers: chrX:g.19373476T>C (hg19) ; chrX:g.19355358T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355358T>C , CM000685.2:g.19355358T>C	GRCh38
NC_000023.10:g.19373476T>C , CM000685.1:g.19373476T>C	GRCh37
NC_000023.9:g.19283397T>C	NCBI36
NG_016781.1:g.16466T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.634T>C	ENSP00000348062.6:p.Phe212Leu
ENST00000379805.4:c.*305T>C	ENSP00000369133.3:n.*305T>C
ENST00000417819.6:c.697T>C	ENSP00000404616.2:p.Phe233Leu
ENST00000423505.6:c.727T>C	ENSP00000406473.2:p.Phe243Leu
ENST00000481733.2:n.408T>C
ENST00000696704.1:c.428T>C	ENSP00000512823.1:p.Ile143Thr
ENST00000696705.1:c.*68T>C	ENSP00000512824.1:n.*68T>C
ENST00000422285.7:c.613T>C MANE Select	ENSP00000394382.2:p.Phe205Leu
ENST00000379806.9:c.727T>C	ENSP00000369134.5:p.Phe243Leu
ENST00000422285.6:c.613T>C	ENSP00000394382.2:p.Phe205Leu
ENST00000479146.1:n.448T>C
ENST00000481733.1:n.41T>C
ENST00000540249.5:c.520T>C	ENSP00000440761.1:p.Phe174Leu
ENST00000545074.5:c.634T>C	ENSP00000438550.1:p.Phe212Leu
NM_000284.3:c.613T>C	NP_000275.1:p.Phe205Leu
NM_001173454.1:c.727T>C	NP_001166925.1:p.Phe243Leu
NM_001173455.1:c.634T>C	NP_001166926.1:p.Phe212Leu
NM_001173456.1:c.520T>C	NP_001166927.1:p.Phe174Leu
XM_011545531.1:c.748T>C	XP_011543833.1:p.Phe250Leu
XM_011545532.1:c.655T>C	XP_011543834.1:p.Phe219Leu
XM_017029574.2:c.634T>C	XP_016885063.1:p.Phe212Leu
NM_000284.4:c.613T>C MANE Select	NP_000275.1:p.Phe205Leu
NM_001173454.2:c.727T>C	NP_001166925.1:p.Phe243Leu
NM_001173455.2:c.634T>C	NP_001166926.1:p.Phe212Leu
NM_001173456.2:c.520T>C	NP_001166927.1:p.Phe174Leu