Canonical Allele Identifier: CA412394529

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373545G>C (hg19) ; chrX:g.19355427G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355427G>C , CM000685.2:g.19355427G>C	GRCh38
NC_000023.10:g.19373545G>C , CM000685.1:g.19373545G>C	GRCh37
NC_000023.9:g.19283466G>C	NCBI36
NG_016781.1:g.16535G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.703G>C	ENSP00000348062.6:p.Gly235Arg
ENST00000379805.4:c.*374G>C	ENSP00000369133.3:n.*374G>C
ENST00000417819.6:c.766G>C	ENSP00000404616.2:p.Gly256Arg
ENST00000423505.6:c.796G>C	ENSP00000406473.2:p.Gly266Arg
ENST00000481733.2:n.477G>C
ENST00000696704.1:c.*14G>C	ENSP00000512823.1:n.*14G>C
ENST00000696705.1:c.*137G>C	ENSP00000512824.1:n.*137G>C
ENST00000422285.7:c.682G>C MANE Select	ENSP00000394382.2:p.Gly228Arg
ENST00000379806.9:c.796G>C	ENSP00000369134.5:p.Gly266Arg
ENST00000422285.6:c.682G>C	ENSP00000394382.2:p.Gly228Arg
ENST00000479146.1:n.517G>C
ENST00000481733.1:n.110G>C
ENST00000540249.5:c.589G>C	ENSP00000440761.1:p.Gly197Arg
ENST00000545074.5:c.703G>C	ENSP00000438550.1:p.Gly235Arg
NM_000284.3:c.682G>C	NP_000275.1:p.Gly228Arg
NM_001173454.1:c.796G>C	NP_001166925.1:p.Gly266Arg
NM_001173455.1:c.703G>C	NP_001166926.1:p.Gly235Arg
NM_001173456.1:c.589G>C	NP_001166927.1:p.Gly197Arg
XM_011545531.1:c.817G>C	XP_011543833.1:p.Gly273Arg
XM_011545532.1:c.724G>C	XP_011543834.1:p.Gly242Arg
XM_017029574.2:c.703G>C	XP_016885063.1:p.Gly235Arg
NM_000284.4:c.682G>C MANE Select	NP_000275.1:p.Gly228Arg
NM_001173454.2:c.796G>C	NP_001166925.1:p.Gly266Arg
NM_001173455.2:c.703G>C	NP_001166926.1:p.Gly235Arg
NM_001173456.2:c.589G>C	NP_001166927.1:p.Gly197Arg