Canonical Allele Identifier: CA515486007

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373514T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355396T>C , CM000685.2:g.19355396T>C	GRCh38
NC_000023.10:g.19373514T>C , CM000685.1:g.19373514T>C	GRCh37
NC_000023.9:g.19283435T>C	NCBI36
NG_016781.1:g.16504T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.672T>C	ENSP00000348062.6:p.Pro224=
ENST00000379805.4:c.*343T>C	ENSP00000369133.3:n.*343T>C
ENST00000417819.6:c.735T>C	ENSP00000404616.2:p.Pro245=
ENST00000423505.6:c.765T>C	ENSP00000406473.2:p.Pro255=
ENST00000481733.2:n.446T>C
ENST00000696704.1:c.466T>C	ENSP00000512823.1:p.Leu156=
ENST00000696705.1:c.*106T>C	ENSP00000512824.1:n.*106T>C
ENST00000422285.7:c.651T>C MANE Select	ENSP00000394382.2:p.Pro217=
ENST00000379806.9:c.765T>C	ENSP00000369134.5:p.Pro255=
ENST00000422285.6:c.651T>C	ENSP00000394382.2:p.Pro217=
ENST00000479146.1:n.486T>C
ENST00000481733.1:n.79T>C
ENST00000540249.5:c.558T>C	ENSP00000440761.1:p.Pro186=
ENST00000545074.5:c.672T>C	ENSP00000438550.1:p.Pro224=
NM_000284.3:c.651T>C	NP_000275.1:p.Pro217=
NM_001173454.1:c.765T>C	NP_001166925.1:p.Pro255=
NM_001173455.1:c.672T>C	NP_001166926.1:p.Pro224=
NM_001173456.1:c.558T>C	NP_001166927.1:p.Pro186=
XM_011545531.1:c.786T>C	XP_011543833.1:p.Pro262=
XM_011545532.1:c.693T>C	XP_011543834.1:p.Pro231=
XM_017029574.2:c.672T>C	XP_016885063.1:p.Pro224=
NM_000284.4:c.651T>C MANE Select	NP_000275.1:p.Pro217=
NM_001173454.2:c.765T>C	NP_001166925.1:p.Pro255=
NM_001173455.2:c.672T>C	NP_001166926.1:p.Pro224=
NM_001173456.2:c.558T>C	NP_001166927.1:p.Pro186=