Canonical Allele Identifier: CA412396882

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359582-A-G
• MyVariant Identifiers: chrX:g.19377700A>G (hg19) ; chrX:g.19359582A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359582A>G , CM000685.2:g.19359582A>G	GRCh38
NC_000023.10:g.19377700A>G , CM000685.1:g.19377700A>G	GRCh37
NC_000023.9:g.19287621A>G	NCBI36
NG_016781.1:g.20690A>G
NG_021184.1:g.160680T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1123A>G	ENSP00000348062.6:p.Ile375Val
ENST00000379805.4:c.*794A>G	ENSP00000369133.3:n.*794A>G
ENST00000417819.6:c.1186A>G	ENSP00000404616.2:p.Ile396Val
ENST00000423505.6:c.1216A>G	ENSP00000406473.2:p.Ile406Val
ENST00000481733.2:n.897A>G
ENST00000696704.1:c.*434A>G	ENSP00000512823.1:n.*434A>G
ENST00000696705.1:c.*557A>G	ENSP00000512824.1:n.*557A>G
ENST00000422285.7:c.1102A>G MANE Select	ENSP00000394382.2:p.Ile368Val
ENST00000379804.1:c.259A>G	ENSP00000369132.1:p.Ile87Val
ENST00000379806.9:c.1216A>G	ENSP00000369134.5:p.Ile406Val
ENST00000422285.6:c.1102A>G	ENSP00000394382.2:p.Ile368Val
ENST00000478795.1:n.541A>G
ENST00000540249.5:c.1009A>G	ENSP00000440761.1:p.Ile337Val
ENST00000545074.5:c.1123A>G	ENSP00000438550.1:p.Ile375Val
NM_000284.3:c.1102A>G	NP_000275.1:p.Ile368Val
NM_001173454.1:c.1216A>G	NP_001166925.1:p.Ile406Val
NM_001173455.1:c.1123A>G	NP_001166926.1:p.Ile375Val
NM_001173456.1:c.1009A>G	NP_001166927.1:p.Ile337Val
XM_011545531.1:c.1237A>G	XP_011543833.1:p.Ile413Val
XM_011545532.1:c.1144A>G	XP_011543834.1:p.Ile382Val
XM_017029574.2:c.1123A>G	XP_016885063.1:p.Ile375Val
NM_000284.4:c.1102A>G MANE Select	NP_000275.1:p.Ile368Val
NM_001173454.2:c.1216A>G	NP_001166925.1:p.Ile406Val
NM_001173455.2:c.1123A>G	NP_001166926.1:p.Ile375Val
NM_001173456.2:c.1009A>G	NP_001166927.1:p.Ile337Val