Canonical Allele Identifier: CA412394748

Gene: PDHA1

Linked Data

• dbSNP Id: rs1450663466
• gnomAD v2: X-19373819-A-G
• gnomAD v4: X-19355701-A-G
• MyVariant Identifiers: chrX:g.19373819A>G (hg19) ; chrX:g.19355701A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355701A>G , CM000685.2:g.19355701A>G	GRCh38
NC_000023.10:g.19373819A>G , CM000685.1:g.19373819A>G	GRCh37
NC_000023.9:g.19283740A>G	NCBI36
NG_016781.1:g.16809A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.796A>G	ENSP00000348062.6:p.Ile266Val
ENST00000379805.4:c.*467A>G	ENSP00000369133.3:n.*467A>G
ENST00000417819.6:c.859A>G	ENSP00000404616.2:p.Ile287Val
ENST00000423505.6:c.889A>G	ENSP00000406473.2:p.Ile297Val
ENST00000481733.2:n.570A>G
ENST00000696704.1:c.*107A>G	ENSP00000512823.1:n.*107A>G
ENST00000696705.1:c.*230A>G	ENSP00000512824.1:n.*230A>G
ENST00000422285.7:c.775A>G MANE Select	ENSP00000394382.2:p.Ile259Val
ENST00000379804.1:c.-69A>G	ENSP00000369132.1:n.-69A>G
ENST00000379806.9:c.889A>G	ENSP00000369134.5:p.Ile297Val
ENST00000422285.6:c.775A>G	ENSP00000394382.2:p.Ile259Val
ENST00000481733.1:n.203A>G
ENST00000540249.5:c.682A>G	ENSP00000440761.1:p.Ile228Val
ENST00000545074.5:c.796A>G	ENSP00000438550.1:p.Ile266Val
NM_000284.3:c.775A>G	NP_000275.1:p.Ile259Val
NM_001173454.1:c.889A>G	NP_001166925.1:p.Ile297Val
NM_001173455.1:c.796A>G	NP_001166926.1:p.Ile266Val
NM_001173456.1:c.682A>G	NP_001166927.1:p.Ile228Val
XM_011545531.1:c.910A>G	XP_011543833.1:p.Ile304Val
XM_011545532.1:c.817A>G	XP_011543834.1:p.Ile273Val
XM_017029574.2:c.796A>G	XP_016885063.1:p.Ile266Val
NM_000284.4:c.775A>G MANE Select	NP_000275.1:p.Ile259Val
NM_001173454.2:c.889A>G	NP_001166925.1:p.Ile297Val
NM_001173455.2:c.796A>G	NP_001166926.1:p.Ile266Val
NM_001173456.2:c.682A>G	NP_001166927.1:p.Ile228Val