Canonical Allele Identifier: CA10363164

Gene: PDHA1

Linked Data

• dbSNP Id: rs766055203
• ExAC: X:19377045 G / A
• gnomAD v2: X-19377045-G-A
• gnomAD v4: X-19358927-G-A
• COSMIC: COSM1220055 ; COSM1220056 ; COSM4378528
• MyVariant Identifiers: chrX:g.19377045G>A (hg19) ; chrX:g.19358927G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358927G>A , CM000685.2:g.19358927G>A	GRCh38
NC_000023.10:g.19377045G>A , CM000685.1:g.19377045G>A	GRCh37
NC_000023.9:g.19286966G>A	NCBI36
NG_016781.1:g.20035G>A
NG_021184.1:g.161335C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.932G>A	ENSP00000348062.6:p.Arg311Gln
ENST00000379805.4:c.*603G>A	ENSP00000369133.3:n.*603G>A
ENST00000417819.6:c.995G>A	ENSP00000404616.2:p.Arg332Gln
ENST00000423505.6:c.1025G>A	ENSP00000406473.2:p.Arg342Gln
ENST00000481733.2:n.706G>A
ENST00000696704.1:c.*243G>A	ENSP00000512823.1:n.*243G>A
ENST00000696705.1:c.*366G>A	ENSP00000512824.1:n.*366G>A
ENST00000422285.7:c.911G>A MANE Select	ENSP00000394382.2:p.Arg304Gln
ENST00000379804.1:c.68G>A	ENSP00000369132.1:p.Arg23Gln
ENST00000379806.9:c.1025G>A	ENSP00000369134.5:p.Arg342Gln
ENST00000422285.6:c.911G>A	ENSP00000394382.2:p.Arg304Gln
ENST00000478795.1:n.350G>A
ENST00000481733.1:n.339G>A
ENST00000540249.5:c.818G>A	ENSP00000440761.1:p.Arg273Gln
ENST00000545074.5:c.932G>A	ENSP00000438550.1:p.Arg311Gln
NM_000284.3:c.911G>A	NP_000275.1:p.Arg304Gln
NM_001173454.1:c.1025G>A	NP_001166925.1:p.Arg342Gln
NM_001173455.1:c.932G>A	NP_001166926.1:p.Arg311Gln
NM_001173456.1:c.818G>A	NP_001166927.1:p.Arg273Gln
XM_011545531.1:c.1046G>A	XP_011543833.1:p.Arg349Gln
XM_011545532.1:c.953G>A	XP_011543834.1:p.Arg318Gln
XM_017029574.2:c.932G>A	XP_016885063.1:p.Arg311Gln
NM_000284.4:c.911G>A MANE Select	NP_000275.1:p.Arg304Gln
NM_001173454.2:c.1025G>A	NP_001166925.1:p.Arg342Gln
NM_001173455.2:c.932G>A	NP_001166926.1:p.Arg311Gln
NM_001173456.2:c.818G>A	NP_001166927.1:p.Arg273Gln