Canonical Allele Identifier: CA412396526

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 430418
• ClinVar RCV Id: RCV000493478
• dbSNP Id: rs1131691952
• MyVariant Identifiers: chrX:g.19377644C>T (hg19) ; chrX:g.19359526C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359526C>T , CM000685.2:g.19359526C>T	GRCh38
NC_000023.10:g.19377644C>T , CM000685.1:g.19377644C>T	GRCh37
NC_000023.9:g.19287565C>T	NCBI36
NG_016781.1:g.20634C>T
NG_021184.1:g.160736G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1067C>T	ENSP00000348062.6:p.Ala356Val
ENST00000379805.4:c.*738C>T	ENSP00000369133.3:n.*738C>T
ENST00000417819.6:c.1130C>T	ENSP00000404616.2:p.Ala377Val
ENST00000423505.6:c.1160C>T	ENSP00000406473.2:p.Ala387Val
ENST00000481733.2:n.841C>T
ENST00000696704.1:c.*378C>T	ENSP00000512823.1:n.*378C>T
ENST00000696705.1:c.*501C>T	ENSP00000512824.1:n.*501C>T
ENST00000422285.7:c.1046C>T MANE Select	ENSP00000394382.2:p.Ala349Val
ENST00000379804.1:c.203C>T	ENSP00000369132.1:p.Ala68Val
ENST00000379806.9:c.1160C>T	ENSP00000369134.5:p.Ala387Val
ENST00000422285.6:c.1046C>T	ENSP00000394382.2:p.Ala349Val
ENST00000478795.1:n.485C>T
ENST00000540249.5:c.953C>T	ENSP00000440761.1:p.Ala318Val
ENST00000545074.5:c.1067C>T	ENSP00000438550.1:p.Ala356Val
NM_000284.3:c.1046C>T	NP_000275.1:p.Ala349Val
NM_001173454.1:c.1160C>T	NP_001166925.1:p.Ala387Val
NM_001173455.1:c.1067C>T	NP_001166926.1:p.Ala356Val
NM_001173456.1:c.953C>T	NP_001166927.1:p.Ala318Val
XM_011545531.1:c.1181C>T	XP_011543833.1:p.Ala394Val
XM_011545532.1:c.1088C>T	XP_011543834.1:p.Ala363Val
XM_017029574.2:c.1067C>T	XP_016885063.1:p.Ala356Val
NM_000284.4:c.1046C>T MANE Select	NP_000275.1:p.Ala349Val
NM_001173454.2:c.1160C>T	NP_001166925.1:p.Ala387Val
NM_001173455.2:c.1067C>T	NP_001166926.1:p.Ala356Val
NM_001173456.2:c.953C>T	NP_001166927.1:p.Ala318Val