Canonical Allele Identifier: CA10363140

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 797499
• ClinVar RCV Id: RCV002372696
• dbSNP Id: rs761411007
• ExAC: X:19375808 C / T
• gnomAD v2: X-19375808-C-T
• gnomAD v4: X-19357690-C-T
• COSMIC: COSM4589355 ; COSM4589356 ; COSM4589357
• MyVariant Identifiers: chrX:g.19375808C>T (hg19) ; chrX:g.19357690C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357690C>T , CM000685.2:g.19357690C>T	GRCh38
NC_000023.10:g.19375808C>T , CM000685.1:g.19375808C>T	GRCh37
NC_000023.9:g.19285729C>T	NCBI36
NG_016781.1:g.18798C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.891C>T	ENSP00000348062.6:p.His297=
ENST00000379805.4:c.*562C>T	ENSP00000369133.3:n.*562C>T
ENST00000417819.6:c.954C>T	ENSP00000404616.2:p.His318=
ENST00000423505.6:c.984C>T	ENSP00000406473.2:p.His328=
ENST00000481733.2:n.665C>T
ENST00000696704.1:c.*202C>T	ENSP00000512823.1:n.*202C>T
ENST00000696705.1:c.*325C>T	ENSP00000512824.1:n.*325C>T
ENST00000422285.7:c.870C>T MANE Select	ENSP00000394382.2:p.His290=
ENST00000379804.1:c.27C>T	ENSP00000369132.1:p.His9=
ENST00000379806.9:c.984C>T	ENSP00000369134.5:p.His328=
ENST00000422285.6:c.870C>T	ENSP00000394382.2:p.His290=
ENST00000478795.1:n.309C>T
ENST00000481733.1:n.298C>T
ENST00000540249.5:c.777C>T	ENSP00000440761.1:p.His259=
ENST00000545074.5:c.891C>T	ENSP00000438550.1:p.His297=
NM_000284.3:c.870C>T	NP_000275.1:p.His290=
NM_001173454.1:c.984C>T	NP_001166925.1:p.His328=
NM_001173455.1:c.891C>T	NP_001166926.1:p.His297=
NM_001173456.1:c.777C>T	NP_001166927.1:p.His259=
XM_011545531.1:c.1005C>T	XP_011543833.1:p.His335=
XM_011545532.1:c.912C>T	XP_011543834.1:p.His304=
XM_017029574.2:c.891C>T	XP_016885063.1:p.His297=
NM_000284.4:c.870C>T MANE Select	NP_000275.1:p.His290=
NM_001173454.2:c.984C>T	NP_001166925.1:p.His328=
NM_001173455.2:c.891C>T	NP_001166926.1:p.His297=
NM_001173456.2:c.777C>T	NP_001166927.1:p.His259=