Canonical Allele Identifier: CA873741857

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 2694726
• ClinVar RCV Id: RCV003509889
• dbSNP Id: rs1474566147
• gnomAD v4: X-19358900-T-C
• MyVariant Identifiers: chrX:g.19377018T>C (hg19) ; chrX:g.19358900T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358900T>C , CM000685.2:g.19358900T>C	GRCh38
NC_000023.10:g.19377018T>C , CM000685.1:g.19377018T>C	GRCh37
NC_000023.9:g.19286939T>C	NCBI36
NG_016781.1:g.20008T>C
NG_021184.1:g.161362A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.921-16T>C	ENSP00000348062.6:n.921-16T>C
ENST00000379805.4:c.*592-16T>C	ENSP00000369133.3:n.*592-16T>C
ENST00000417819.6:c.984-16T>C	ENSP00000404616.2:n.984-16T>C
ENST00000423505.6:c.1014-16T>C	ENSP00000406473.2:n.1014-16T>C
ENST00000481733.2:n.695-16T>C
ENST00000696704.1:c.*232-16T>C	ENSP00000512823.1:n.*232-16T>C
ENST00000696705.1:c.*355-16T>C	ENSP00000512824.1:n.*355-16T>C
ENST00000422285.7:c.900-16T>C MANE Select	ENSP00000394382.2:n.900-16T>C
ENST00000379804.1:c.57-16T>C	ENSP00000369132.1:n.57-16T>C
ENST00000379806.9:c.1014-16T>C	ENSP00000369134.5:n.1014-16T>C
ENST00000422285.6:c.900-16T>C	ENSP00000394382.2:n.900-16T>C
ENST00000478795.1:n.339-16T>C
ENST00000481733.1:n.328-16T>C
ENST00000540249.5:c.807-16T>C	ENSP00000440761.1:n.807-16T>C
ENST00000545074.5:c.921-16T>C	ENSP00000438550.1:n.921-16T>C
NM_000284.3:c.900-16T>C	NP_000275.1:n.900-16T>C
NM_001173454.1:c.1014-16T>C	NP_001166925.1:n.1014-16T>C
NM_001173455.1:c.921-16T>C	NP_001166926.1:n.921-16T>C
NM_001173456.1:c.807-16T>C	NP_001166927.1:n.807-16T>C
XM_011545531.1:c.1035-16T>C	XP_011543833.1:n.1035-16T>C
XM_011545532.1:c.942-16T>C	XP_011543834.1:n.942-16T>C
XM_017029574.2:c.921-16T>C	XP_016885063.1:n.921-16T>C
NM_000284.4:c.900-16T>C MANE Select	NP_000275.1:n.900-16T>C
NM_001173454.2:c.1014-16T>C	NP_001166925.1:n.1014-16T>C
NM_001173455.2:c.921-16T>C	NP_001166926.1:n.921-16T>C
NM_001173456.2:c.807-16T>C	NP_001166927.1:n.807-16T>C