Canonical Allele Identifier: CA220607

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 92770
• ClinVar RCV Id: RCV000078557 ; RCV001218777
• dbSNP Id: rs398123300
• COSMIC: COSM457227 ; COSM1490771 ; COSM5194169 ; COSM5194170
• MyVariant Identifiers: chrX:g.19371264C>T (hg19) ; chrX:g.19353146C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19353146C>T , CM000685.2:g.19353146C>T	GRCh38
NC_000023.10:g.19371264C>T , CM000685.1:g.19371264C>T	GRCh37
NC_000023.9:g.19281185C>T	NCBI36
NG_016781.1:g.14254C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.504C>T	ENSP00000348062.6:p.Tyr168=
ENST00000379805.4:c.483C>T	ENSP00000369133.3:p.Tyr161=
ENST00000417819.6:c.567C>T	ENSP00000404616.2:p.Tyr189=
ENST00000423505.6:c.597C>T	ENSP00000406473.2:p.Tyr199=
ENST00000696704.1:c.418+1739C>T	ENSP00000512823.1:n.418+1739C>T
ENST00000696705.1:c.419-1345C>T	ENSP00000512824.1:n.419-1345C>T
ENST00000422285.7:c.483C>T MANE Select	ENSP00000394382.2:p.Tyr161=
ENST00000355808.9:c.504C>T	ENSP00000348062.5:p.Tyr168=
ENST00000379805.3:c.483C>T	ENSP00000369133.3:p.Tyr161=
ENST00000379806.9:c.597C>T	ENSP00000369134.5:p.Tyr199=
ENST00000422285.6:c.483C>T	ENSP00000394382.2:p.Tyr161=
ENST00000423505.5:c.597C>T	ENSP00000406473.1:p.Tyr199=
ENST00000479146.1:n.318C>T
ENST00000540249.5:c.483C>T	ENSP00000440761.1:p.Tyr161=
ENST00000545074.5:c.504C>T	ENSP00000438550.1:p.Tyr168=
NM_000284.3:c.483C>T	NP_000275.1:p.Tyr161=
NM_001173454.1:c.597C>T	NP_001166925.1:p.Tyr199=
NM_001173455.1:c.504C>T	NP_001166926.1:p.Tyr168=
NM_001173456.1:c.483C>T	NP_001166927.1:p.Tyr161=
XM_011545531.1:c.618C>T	XP_011543833.1:p.Tyr206=
XM_011545532.1:c.618C>T	XP_011543834.1:p.Tyr206=
XM_017029574.2:c.597C>T	XP_016885063.1:p.Tyr199=
NM_000284.4:c.483C>T MANE Select	NP_000275.1:p.Tyr161=
NM_001173454.2:c.597C>T	NP_001166925.1:p.Tyr199=
NM_001173455.2:c.504C>T	NP_001166926.1:p.Tyr168=
NM_001173456.2:c.483C>T	NP_001166927.1:p.Tyr161=