Canonical Allele Identifier: CA121216

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 10881
• ClinVar RCV Id: RCV000011628
• dbSNP Id: rs137853253
• MyVariant Identifiers: chrX:g.19373817A>C (hg19) ; chrX:g.19355699A>C (hg38)
• PubMed: PMID:8032855 ; PMID:8498846

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355699A>C , CM000685.2:g.19355699A>C	GRCh38
NC_000023.10:g.19373817A>C , CM000685.1:g.19373817A>C	GRCh37
NC_000023.9:g.19283738A>C	NCBI36
NG_016781.1:g.16807A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.794A>C	ENSP00000348062.6:p.Asp265Ala
ENST00000379805.4:c.*465A>C	ENSP00000369133.3:n.*465A>C
ENST00000417819.6:c.857A>C	ENSP00000404616.2:p.Asp286Ala
ENST00000423505.6:c.887A>C	ENSP00000406473.2:p.Asp296Ala
ENST00000481733.2:n.568A>C
ENST00000696704.1:c.*105A>C	ENSP00000512823.1:n.*105A>C
ENST00000696705.1:c.*228A>C	ENSP00000512824.1:n.*228A>C
ENST00000422285.7:c.773A>C MANE Select	ENSP00000394382.2:p.Asp258Ala
ENST00000379804.1:c.-71A>C	ENSP00000369132.1:n.-71A>C
ENST00000379806.9:c.887A>C	ENSP00000369134.5:p.Asp296Ala
ENST00000422285.6:c.773A>C	ENSP00000394382.2:p.Asp258Ala
ENST00000481733.1:n.201A>C
ENST00000540249.5:c.680A>C	ENSP00000440761.1:p.Asp227Ala
ENST00000545074.5:c.794A>C	ENSP00000438550.1:p.Asp265Ala
NM_000284.3:c.773A>C	NP_000275.1:p.Asp258Ala
NM_001173454.1:c.887A>C	NP_001166925.1:p.Asp296Ala
NM_001173455.1:c.794A>C	NP_001166926.1:p.Asp265Ala
NM_001173456.1:c.680A>C	NP_001166927.1:p.Asp227Ala
XM_011545531.1:c.908A>C	XP_011543833.1:p.Asp303Ala
XM_011545532.1:c.815A>C	XP_011543834.1:p.Asp272Ala
XM_017029574.2:c.794A>C	XP_016885063.1:p.Asp265Ala
NM_000284.4:c.773A>C MANE Select	NP_000275.1:p.Asp258Ala
NM_001173454.2:c.887A>C	NP_001166925.1:p.Asp296Ala
NM_001173455.2:c.794A>C	NP_001166926.1:p.Asp265Ala
NM_001173456.2:c.680A>C	NP_001166927.1:p.Asp227Ala