Canonical Allele Identifier: CA10363082

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 1113554
• ClinVar RCV Id: RCV001440973
• dbSNP Id: rs768600287
• ExAC: X:19373619 G / C
• gnomAD v2: X-19373619-G-C
• gnomAD v4: X-19355501-G-C
• MyVariant Identifiers: chrX:g.19373619G>C (hg19) ; chrX:g.19355501G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355501G>C , CM000685.2:g.19355501G>C	GRCh38
NC_000023.10:g.19373619G>C , CM000685.1:g.19373619G>C	GRCh37
NC_000023.9:g.19283540G>C	NCBI36
NG_016781.1:g.16609G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.777G>C	ENSP00000348062.6:p.Leu259=
ENST00000379805.4:c.*448G>C	ENSP00000369133.3:n.*448G>C
ENST00000417819.6:c.840G>C	ENSP00000404616.2:p.Leu280=
ENST00000423505.6:c.870G>C	ENSP00000406473.2:p.Leu290=
ENST00000481733.2:n.551G>C
ENST00000696704.1:c.*88G>C	ENSP00000512823.1:n.*88G>C
ENST00000696705.1:c.*211G>C	ENSP00000512824.1:n.*211G>C
ENST00000422285.7:c.756G>C MANE Select	ENSP00000394382.2:p.Leu252=
ENST00000379806.9:c.870G>C	ENSP00000369134.5:p.Leu290=
ENST00000422285.6:c.756G>C	ENSP00000394382.2:p.Leu252=
ENST00000481733.1:n.184G>C
ENST00000540249.5:c.663G>C	ENSP00000440761.1:p.Leu221=
ENST00000545074.5:c.777G>C	ENSP00000438550.1:p.Leu259=
NM_000284.3:c.756G>C	NP_000275.1:p.Leu252=
NM_001173454.1:c.870G>C	NP_001166925.1:p.Leu290=
NM_001173455.1:c.777G>C	NP_001166926.1:p.Leu259=
NM_001173456.1:c.663G>C	NP_001166927.1:p.Leu221=
XM_011545531.1:c.891G>C	XP_011543833.1:p.Leu297=
XM_011545532.1:c.798G>C	XP_011543834.1:p.Leu266=
XM_017029574.2:c.777G>C	XP_016885063.1:p.Leu259=
NM_000284.4:c.756G>C MANE Select	NP_000275.1:p.Leu252=
NM_001173454.2:c.870G>C	NP_001166925.1:p.Leu290=
NM_001173455.2:c.777G>C	NP_001166926.1:p.Leu259=
NM_001173456.2:c.663G>C	NP_001166927.1:p.Leu221=