Canonical Allele Identifier: CA412394701

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373622A>T (hg19) ; chrX:g.19355504A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355504A>T , CM000685.2:g.19355504A>T	GRCh38
NC_000023.10:g.19373622A>T , CM000685.1:g.19373622A>T	GRCh37
NC_000023.9:g.19283543A>T	NCBI36
NG_016781.1:g.16612A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.780A>T	ENSP00000348062.6:p.Arg260Ser
ENST00000379805.4:c.*451A>T	ENSP00000369133.3:n.*451A>T
ENST00000417819.6:c.843A>T	ENSP00000404616.2:p.Arg281Ser
ENST00000423505.6:c.873A>T	ENSP00000406473.2:p.Arg291Ser
ENST00000481733.2:n.554A>T
ENST00000696704.1:c.*91A>T	ENSP00000512823.1:n.*91A>T
ENST00000696705.1:c.*214A>T	ENSP00000512824.1:n.*214A>T
ENST00000422285.7:c.759A>T MANE Select	ENSP00000394382.2:p.Arg253Ser
ENST00000379806.9:c.873A>T	ENSP00000369134.5:p.Arg291Ser
ENST00000422285.6:c.759A>T	ENSP00000394382.2:p.Arg253Ser
ENST00000481733.1:n.187A>T
ENST00000540249.5:c.666A>T	ENSP00000440761.1:p.Arg222Ser
ENST00000545074.5:c.780A>T	ENSP00000438550.1:p.Arg260Ser
NM_000284.3:c.759A>T	NP_000275.1:p.Arg253Ser
NM_001173454.1:c.873A>T	NP_001166925.1:p.Arg291Ser
NM_001173455.1:c.780A>T	NP_001166926.1:p.Arg260Ser
NM_001173456.1:c.666A>T	NP_001166927.1:p.Arg222Ser
XM_011545531.1:c.894A>T	XP_011543833.1:p.Arg298Ser
XM_011545532.1:c.801A>T	XP_011543834.1:p.Arg267Ser
XM_017029574.2:c.780A>T	XP_016885063.1:p.Arg260Ser
NM_000284.4:c.759A>T MANE Select	NP_000275.1:p.Arg253Ser
NM_001173454.2:c.873A>T	NP_001166925.1:p.Arg291Ser
NM_001173455.2:c.780A>T	NP_001166926.1:p.Arg260Ser
NM_001173456.2:c.666A>T	NP_001166927.1:p.Arg222Ser