Canonical Allele Identifier: CA515486064

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373610T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355492T>C , CM000685.2:g.19355492T>C	GRCh38
NC_000023.10:g.19373610T>C , CM000685.1:g.19373610T>C	GRCh37
NC_000023.9:g.19283531T>C	NCBI36
NG_016781.1:g.16600T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.768T>C	ENSP00000348062.6:p.Ile256=
ENST00000379805.4:c.*439T>C	ENSP00000369133.3:n.*439T>C
ENST00000417819.6:c.831T>C	ENSP00000404616.2:p.Ile277=
ENST00000423505.6:c.861T>C	ENSP00000406473.2:p.Ile287=
ENST00000481733.2:n.542T>C
ENST00000696704.1:c.*79T>C	ENSP00000512823.1:n.*79T>C
ENST00000696705.1:c.*202T>C	ENSP00000512824.1:n.*202T>C
ENST00000422285.7:c.747T>C MANE Select	ENSP00000394382.2:p.Ile249=
ENST00000379806.9:c.861T>C	ENSP00000369134.5:p.Ile287=
ENST00000422285.6:c.747T>C	ENSP00000394382.2:p.Ile249=
ENST00000481733.1:n.175T>C
ENST00000540249.5:c.654T>C	ENSP00000440761.1:p.Ile218=
ENST00000545074.5:c.768T>C	ENSP00000438550.1:p.Ile256=
NM_000284.3:c.747T>C	NP_000275.1:p.Ile249=
NM_001173454.1:c.861T>C	NP_001166925.1:p.Ile287=
NM_001173455.1:c.768T>C	NP_001166926.1:p.Ile256=
NM_001173456.1:c.654T>C	NP_001166927.1:p.Ile218=
XM_011545531.1:c.882T>C	XP_011543833.1:p.Ile294=
XM_011545532.1:c.789T>C	XP_011543834.1:p.Ile263=
XM_017029574.2:c.768T>C	XP_016885063.1:p.Ile256=
NM_000284.4:c.747T>C MANE Select	NP_000275.1:p.Ile249=
NM_001173454.2:c.861T>C	NP_001166925.1:p.Ile287=
NM_001173455.2:c.768T>C	NP_001166926.1:p.Ile256=
NM_001173456.2:c.654T>C	NP_001166927.1:p.Ile218=