Canonical Allele Identifier: CA515486196

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 1639169
• ClinVar RCV Id: RCV002128848
• dbSNP Id: rs1248347868
• gnomAD v3: X-19357693-A-T
• gnomAD v4: X-19357693-A-T
• MyVariant Identifiers: chrX:g.19375811A>T (hg19) ; chrX:g.19357693A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357693A>T , CM000685.2:g.19357693A>T	GRCh38
NC_000023.10:g.19375811A>T , CM000685.1:g.19375811A>T	GRCh37
NC_000023.9:g.19285732A>T	NCBI36
NG_016781.1:g.18801A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.894A>T	ENSP00000348062.6:p.Gly298=
ENST00000379805.4:c.*565A>T	ENSP00000369133.3:n.*565A>T
ENST00000417819.6:c.957A>T	ENSP00000404616.2:p.Gly319=
ENST00000423505.6:c.987A>T	ENSP00000406473.2:p.Gly329=
ENST00000481733.2:n.668A>T
ENST00000696704.1:c.*205A>T	ENSP00000512823.1:n.*205A>T
ENST00000696705.1:c.*328A>T	ENSP00000512824.1:n.*328A>T
ENST00000422285.7:c.873A>T MANE Select	ENSP00000394382.2:p.Gly291=
ENST00000379804.1:c.30A>T	ENSP00000369132.1:p.Gly10=
ENST00000379806.9:c.987A>T	ENSP00000369134.5:p.Gly329=
ENST00000422285.6:c.873A>T	ENSP00000394382.2:p.Gly291=
ENST00000478795.1:n.312A>T
ENST00000481733.1:n.301A>T
ENST00000540249.5:c.780A>T	ENSP00000440761.1:p.Gly260=
ENST00000545074.5:c.894A>T	ENSP00000438550.1:p.Gly298=
NM_000284.3:c.873A>T	NP_000275.1:p.Gly291=
NM_001173454.1:c.987A>T	NP_001166925.1:p.Gly329=
NM_001173455.1:c.894A>T	NP_001166926.1:p.Gly298=
NM_001173456.1:c.780A>T	NP_001166927.1:p.Gly260=
XM_011545531.1:c.1008A>T	XP_011543833.1:p.Gly336=
XM_011545532.1:c.915A>T	XP_011543834.1:p.Gly305=
XM_017029574.2:c.894A>T	XP_016885063.1:p.Gly298=
NM_000284.4:c.873A>T MANE Select	NP_000275.1:p.Gly291=
NM_001173454.2:c.987A>T	NP_001166925.1:p.Gly329=
NM_001173455.2:c.894A>T	NP_001166926.1:p.Gly298=
NM_001173456.2:c.780A>T	NP_001166927.1:p.Gly260=