Canonical Allele Identifier: CA10363165

Gene: PDHA1

Linked Data

• dbSNP Id: rs751513713
• ExAC: X:19377046 A / C
• gnomAD v2: X-19377046-A-C
• gnomAD v4: X-19358928-A-C
• MyVariant Identifiers: chrX:g.19377046A>C (hg19) ; chrX:g.19358928A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358928A>C , CM000685.2:g.19358928A>C	GRCh38
NC_000023.10:g.19377046A>C , CM000685.1:g.19377046A>C	GRCh37
NC_000023.9:g.19286967A>C	NCBI36
NG_016781.1:g.20036A>C
NG_021184.1:g.161334T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.933A>C	ENSP00000348062.6:p.Arg311=
ENST00000379805.4:c.*604A>C	ENSP00000369133.3:n.*604A>C
ENST00000417819.6:c.996A>C	ENSP00000404616.2:p.Arg332=
ENST00000423505.6:c.1026A>C	ENSP00000406473.2:p.Arg342=
ENST00000481733.2:n.707A>C
ENST00000696704.1:c.*244A>C	ENSP00000512823.1:n.*244A>C
ENST00000696705.1:c.*367A>C	ENSP00000512824.1:n.*367A>C
ENST00000422285.7:c.912A>C MANE Select	ENSP00000394382.2:p.Arg304=
ENST00000379804.1:c.69A>C	ENSP00000369132.1:p.Arg23=
ENST00000379806.9:c.1026A>C	ENSP00000369134.5:p.Arg342=
ENST00000422285.6:c.912A>C	ENSP00000394382.2:p.Arg304=
ENST00000478795.1:n.351A>C
ENST00000481733.1:n.340A>C
ENST00000540249.5:c.819A>C	ENSP00000440761.1:p.Arg273=
ENST00000545074.5:c.933A>C	ENSP00000438550.1:p.Arg311=
NM_000284.3:c.912A>C	NP_000275.1:p.Arg304=
NM_001173454.1:c.1026A>C	NP_001166925.1:p.Arg342=
NM_001173455.1:c.933A>C	NP_001166926.1:p.Arg311=
NM_001173456.1:c.819A>C	NP_001166927.1:p.Arg273=
XM_011545531.1:c.1047A>C	XP_011543833.1:p.Arg349=
XM_011545532.1:c.954A>C	XP_011543834.1:p.Arg318=
XM_017029574.2:c.933A>C	XP_016885063.1:p.Arg311=
NM_000284.4:c.912A>C MANE Select	NP_000275.1:p.Arg304=
NM_001173454.2:c.1026A>C	NP_001166925.1:p.Arg342=
NM_001173455.2:c.933A>C	NP_001166926.1:p.Arg311=
NM_001173456.2:c.819A>C	NP_001166927.1:p.Arg273=