Canonical Allele Identifier: CA515485867

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 1120869
• ClinVar RCV Id: RCV001450948
• dbSNP Id: rs1268555913
• MyVariant Identifiers: chrX:g.19371216T>C (hg19) ; chrX:g.19353098T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19353098T>C , CM000685.2:g.19353098T>C	GRCh38
NC_000023.10:g.19371216T>C , CM000685.1:g.19371216T>C	GRCh37
NC_000023.9:g.19281137T>C	NCBI36
NG_016781.1:g.14206T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.456T>C	ENSP00000348062.6:p.Cys152=
ENST00000379805.4:c.435T>C	ENSP00000369133.3:p.Cys145=
ENST00000417819.6:c.519T>C	ENSP00000404616.2:p.Cys173=
ENST00000423505.6:c.549T>C	ENSP00000406473.2:p.Cys183=
ENST00000696704.1:c.418+1691T>C	ENSP00000512823.1:n.418+1691T>C
ENST00000696705.1:c.419-1393T>C	ENSP00000512824.1:n.419-1393T>C
ENST00000422285.7:c.435T>C MANE Select	ENSP00000394382.2:p.Cys145=
ENST00000355808.9:c.456T>C	ENSP00000348062.5:p.Cys152=
ENST00000379805.3:c.435T>C	ENSP00000369133.3:p.Cys145=
ENST00000379806.9:c.549T>C	ENSP00000369134.5:p.Cys183=
ENST00000422285.6:c.435T>C	ENSP00000394382.2:p.Cys145=
ENST00000423505.5:c.549T>C	ENSP00000406473.1:p.Cys183=
ENST00000479146.1:n.270T>C
ENST00000540249.5:c.435T>C	ENSP00000440761.1:p.Cys145=
ENST00000545074.5:c.456T>C	ENSP00000438550.1:p.Cys152=
NM_000284.3:c.435T>C	NP_000275.1:p.Cys145=
NM_001173454.1:c.549T>C	NP_001166925.1:p.Cys183=
NM_001173455.1:c.456T>C	NP_001166926.1:p.Cys152=
NM_001173456.1:c.435T>C	NP_001166927.1:p.Cys145=
XM_011545531.1:c.570T>C	XP_011543833.1:p.Cys190=
XM_011545532.1:c.570T>C	XP_011543834.1:p.Cys190=
XM_017029574.2:c.549T>C	XP_016885063.1:p.Cys183=
NM_000284.4:c.435T>C MANE Select	NP_000275.1:p.Cys145=
NM_001173454.2:c.549T>C	NP_001166925.1:p.Cys183=
NM_001173455.2:c.456T>C	NP_001166926.1:p.Cys152=
NM_001173456.2:c.435T>C	NP_001166927.1:p.Cys145=