Canonical Allele Identifier: CA412396684

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377674C>G (hg19) ; chrX:g.19359556C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359556C>G , CM000685.2:g.19359556C>G	GRCh38
NC_000023.10:g.19377674C>G , CM000685.1:g.19377674C>G	GRCh37
NC_000023.9:g.19287595C>G	NCBI36
NG_016781.1:g.20664C>G
NG_021184.1:g.160706G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1097C>G	ENSP00000348062.6:p.Pro366Arg
ENST00000379805.4:c.*768C>G	ENSP00000369133.3:n.*768C>G
ENST00000417819.6:c.1160C>G	ENSP00000404616.2:p.Pro387Arg
ENST00000423505.6:c.1190C>G	ENSP00000406473.2:p.Pro397Arg
ENST00000481733.2:n.871C>G
ENST00000696704.1:c.*408C>G	ENSP00000512823.1:n.*408C>G
ENST00000696705.1:c.*531C>G	ENSP00000512824.1:n.*531C>G
ENST00000422285.7:c.1076C>G MANE Select	ENSP00000394382.2:p.Pro359Arg
ENST00000379804.1:c.233C>G	ENSP00000369132.1:p.Pro78Arg
ENST00000379806.9:c.1190C>G	ENSP00000369134.5:p.Pro397Arg
ENST00000422285.6:c.1076C>G	ENSP00000394382.2:p.Pro359Arg
ENST00000478795.1:n.515C>G
ENST00000540249.5:c.983C>G	ENSP00000440761.1:p.Pro328Arg
ENST00000545074.5:c.1097C>G	ENSP00000438550.1:p.Pro366Arg
NM_000284.3:c.1076C>G	NP_000275.1:p.Pro359Arg
NM_001173454.1:c.1190C>G	NP_001166925.1:p.Pro397Arg
NM_001173455.1:c.1097C>G	NP_001166926.1:p.Pro366Arg
NM_001173456.1:c.983C>G	NP_001166927.1:p.Pro328Arg
XM_011545531.1:c.1211C>G	XP_011543833.1:p.Pro404Arg
XM_011545532.1:c.1118C>G	XP_011543834.1:p.Pro373Arg
XM_017029574.2:c.1097C>G	XP_016885063.1:p.Pro366Arg
NM_000284.4:c.1076C>G MANE Select	NP_000275.1:p.Pro359Arg
NM_001173454.2:c.1190C>G	NP_001166925.1:p.Pro397Arg
NM_001173455.2:c.1097C>G	NP_001166926.1:p.Pro366Arg
NM_001173456.2:c.983C>G	NP_001166927.1:p.Pro328Arg