Canonical Allele Identifier: CA412394404

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 807461
• ClinVar RCV Id: RCV000995601
• dbSNP Id: rs1569191659
• MyVariant Identifiers: chrX:g.19373505G>T (hg19) ; chrX:g.19355387G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355387G>T , CM000685.2:g.19355387G>T	GRCh38
NC_000023.10:g.19373505G>T , CM000685.1:g.19373505G>T	GRCh37
NC_000023.9:g.19283426G>T	NCBI36
NG_016781.1:g.16495G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.663G>T	ENSP00000348062.6:p.Trp221Cys
ENST00000379805.4:c.*334G>T	ENSP00000369133.3:n.*334G>T
ENST00000417819.6:c.726G>T	ENSP00000404616.2:p.Trp242Cys
ENST00000423505.6:c.756G>T	ENSP00000406473.2:p.Trp252Cys
ENST00000481733.2:n.437G>T
ENST00000696704.1:c.457G>T	ENSP00000512823.1:p.Glu153Ter
ENST00000696705.1:c.*97G>T	ENSP00000512824.1:n.*97G>T
ENST00000422285.7:c.642G>T MANE Select	ENSP00000394382.2:p.Trp214Cys
ENST00000379806.9:c.756G>T	ENSP00000369134.5:p.Trp252Cys
ENST00000422285.6:c.642G>T	ENSP00000394382.2:p.Trp214Cys
ENST00000479146.1:n.477G>T
ENST00000481733.1:n.70G>T
ENST00000540249.5:c.549G>T	ENSP00000440761.1:p.Trp183Cys
ENST00000545074.5:c.663G>T	ENSP00000438550.1:p.Trp221Cys
NM_000284.3:c.642G>T	NP_000275.1:p.Trp214Cys
NM_001173454.1:c.756G>T	NP_001166925.1:p.Trp252Cys
NM_001173455.1:c.663G>T	NP_001166926.1:p.Trp221Cys
NM_001173456.1:c.549G>T	NP_001166927.1:p.Trp183Cys
XM_011545531.1:c.777G>T	XP_011543833.1:p.Trp259Cys
XM_011545532.1:c.684G>T	XP_011543834.1:p.Trp228Cys
XM_017029574.2:c.663G>T	XP_016885063.1:p.Trp221Cys
NM_000284.4:c.642G>T MANE Select	NP_000275.1:p.Trp214Cys
NM_001173454.2:c.756G>T	NP_001166925.1:p.Trp252Cys
NM_001173455.2:c.663G>T	NP_001166926.1:p.Trp221Cys
NM_001173456.2:c.549G>T	NP_001166927.1:p.Trp183Cys