Canonical Allele Identifier: CA515486044

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373574A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355456A>T , CM000685.2:g.19355456A>T	GRCh38
NC_000023.10:g.19373574A>T , CM000685.1:g.19373574A>T	GRCh37
NC_000023.9:g.19283495A>T	NCBI36
NG_016781.1:g.16564A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.732A>T	ENSP00000348062.6:p.Ala244=
ENST00000379805.4:c.*403A>T	ENSP00000369133.3:n.*403A>T
ENST00000417819.6:c.795A>T	ENSP00000404616.2:p.Ala265=
ENST00000423505.6:c.825A>T	ENSP00000406473.2:p.Ala275=
ENST00000481733.2:n.506A>T
ENST00000696704.1:c.*43A>T	ENSP00000512823.1:n.*43A>T
ENST00000696705.1:c.*166A>T	ENSP00000512824.1:n.*166A>T
ENST00000422285.7:c.711A>T MANE Select	ENSP00000394382.2:p.Ala237=
ENST00000379806.9:c.825A>T	ENSP00000369134.5:p.Ala275=
ENST00000422285.6:c.711A>T	ENSP00000394382.2:p.Ala237=
ENST00000481733.1:n.139A>T
ENST00000540249.5:c.618A>T	ENSP00000440761.1:p.Ala206=
ENST00000545074.5:c.732A>T	ENSP00000438550.1:p.Ala244=
NM_000284.3:c.711A>T	NP_000275.1:p.Ala237=
NM_001173454.1:c.825A>T	NP_001166925.1:p.Ala275=
NM_001173455.1:c.732A>T	NP_001166926.1:p.Ala244=
NM_001173456.1:c.618A>T	NP_001166927.1:p.Ala206=
XM_011545531.1:c.846A>T	XP_011543833.1:p.Ala282=
XM_011545532.1:c.753A>T	XP_011543834.1:p.Ala251=
XM_017029574.2:c.732A>T	XP_016885063.1:p.Ala244=
NM_000284.4:c.711A>T MANE Select	NP_000275.1:p.Ala237=
NM_001173454.2:c.825A>T	NP_001166925.1:p.Ala275=
NM_001173455.2:c.732A>T	NP_001166926.1:p.Ala244=
NM_001173456.2:c.618A>T	NP_001166927.1:p.Ala206=