Canonical Allele Identifier: CA515486060

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 432160
• ClinVar RCV Id: RCV000498403 ; RCV000995830
• dbSNP Id: rs1555934379
• MyVariant Identifiers: chrX:g.19373601C>T (hg19) ; chrX:g.19355483C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355483C>T , CM000685.2:g.19355483C>T	GRCh38
NC_000023.10:g.19373601C>T , CM000685.1:g.19373601C>T	GRCh37
NC_000023.9:g.19283522C>T	NCBI36
NG_016781.1:g.16591C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.759C>T	ENSP00000348062.6:p.Gly253=
ENST00000379805.4:c.*430C>T	ENSP00000369133.3:n.*430C>T
ENST00000417819.6:c.822C>T	ENSP00000404616.2:p.Gly274=
ENST00000423505.6:c.852C>T	ENSP00000406473.2:p.Gly284=
ENST00000481733.2:n.533C>T
ENST00000696704.1:c.*70C>T	ENSP00000512823.1:n.*70C>T
ENST00000696705.1:c.*193C>T	ENSP00000512824.1:n.*193C>T
ENST00000422285.7:c.738C>T MANE Select	ENSP00000394382.2:p.Gly246=
ENST00000379806.9:c.852C>T	ENSP00000369134.5:p.Gly284=
ENST00000422285.6:c.738C>T	ENSP00000394382.2:p.Gly246=
ENST00000481733.1:n.166C>T
ENST00000540249.5:c.645C>T	ENSP00000440761.1:p.Gly215=
ENST00000545074.5:c.759C>T	ENSP00000438550.1:p.Gly253=
NM_000284.3:c.738C>T	NP_000275.1:p.Gly246=
NM_001173454.1:c.852C>T	NP_001166925.1:p.Gly284=
NM_001173455.1:c.759C>T	NP_001166926.1:p.Gly253=
NM_001173456.1:c.645C>T	NP_001166927.1:p.Gly215=
XM_011545531.1:c.873C>T	XP_011543833.1:p.Gly291=
XM_011545532.1:c.780C>T	XP_011543834.1:p.Gly260=
XM_017029574.2:c.759C>T	XP_016885063.1:p.Gly253=
NM_000284.4:c.738C>T MANE Select	NP_000275.1:p.Gly246=
NM_001173454.2:c.852C>T	NP_001166925.1:p.Gly284=
NM_001173455.2:c.759C>T	NP_001166926.1:p.Gly253=
NM_001173456.2:c.645C>T	NP_001166927.1:p.Gly215=