Canonical Allele Identifier: CA412397247

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 2737103
• ClinVar RCV Id: RCV003509042
• MyVariant Identifiers: chrX:g.19377746G>A (hg19) ; chrX:g.19359628G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359628G>A , CM000685.2:g.19359628G>A	GRCh38
NC_000023.10:g.19377746G>A , CM000685.1:g.19377746G>A	GRCh37
NC_000023.9:g.19287667G>A	NCBI36
NG_016781.1:g.20736G>A
NG_021184.1:g.160634C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1169G>A	ENSP00000348062.6:p.Trp390Ter
ENST00000379805.4:c.*840G>A	ENSP00000369133.3:n.*840G>A
ENST00000417819.6:c.1232G>A	ENSP00000404616.2:p.Trp411Ter
ENST00000423505.6:c.1262G>A	ENSP00000406473.2:p.Trp421Ter
ENST00000481733.2:n.943G>A
ENST00000696704.1:c.*480G>A	ENSP00000512823.1:n.*480G>A
ENST00000696705.1:c.*603G>A	ENSP00000512824.1:n.*603G>A
ENST00000422285.7:c.1148G>A MANE Select	ENSP00000394382.2:p.Trp383Ter
ENST00000379804.1:c.305G>A	ENSP00000369132.1:p.Trp102Ter
ENST00000379806.9:c.1262G>A	ENSP00000369134.5:p.Trp421Ter
ENST00000422285.6:c.1148G>A	ENSP00000394382.2:p.Trp383Ter
ENST00000478795.1:n.587G>A
ENST00000540249.5:c.1055G>A	ENSP00000440761.1:p.Trp352Ter
ENST00000545074.5:c.1169G>A	ENSP00000438550.1:p.Trp390Ter
NM_000284.3:c.1148G>A	NP_000275.1:p.Trp383Ter
NM_001173454.1:c.1262G>A	NP_001166925.1:p.Trp421Ter
NM_001173455.1:c.1169G>A	NP_001166926.1:p.Trp390Ter
NM_001173456.1:c.1055G>A	NP_001166927.1:p.Trp352Ter
XM_011545531.1:c.1283G>A	XP_011543833.1:p.Trp428Ter
XM_011545532.1:c.1190G>A	XP_011543834.1:p.Trp397Ter
XM_017029574.2:c.1169G>A	XP_016885063.1:p.Trp390Ter
NM_000284.4:c.1148G>A MANE Select	NP_000275.1:p.Trp383Ter
NM_001173454.2:c.1262G>A	NP_001166925.1:p.Trp421Ter
NM_001173455.2:c.1169G>A	NP_001166926.1:p.Trp390Ter
NM_001173456.2:c.1055G>A	NP_001166927.1:p.Trp352Ter