Canonical Allele Identifier: CA412394656

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 991385
• ClinVar RCV Id: RCV001279594 ; RCV001586103
• dbSNP Id: rs2063189797
• gnomAD v4: X-19355484-G-A
• MyVariant Identifiers: chrX:g.19373602G>A (hg19) ; chrX:g.19355484G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355484G>A , CM000685.2:g.19355484G>A	GRCh38
NC_000023.10:g.19373602G>A , CM000685.1:g.19373602G>A	GRCh37
NC_000023.9:g.19283523G>A	NCBI36
NG_016781.1:g.16592G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.760G>A	ENSP00000348062.6:p.Asp254Asn
ENST00000379805.4:c.*431G>A	ENSP00000369133.3:n.*431G>A
ENST00000417819.6:c.823G>A	ENSP00000404616.2:p.Asp275Asn
ENST00000423505.6:c.853G>A	ENSP00000406473.2:p.Asp285Asn
ENST00000481733.2:n.534G>A
ENST00000696704.1:c.*71G>A	ENSP00000512823.1:n.*71G>A
ENST00000696705.1:c.*194G>A	ENSP00000512824.1:n.*194G>A
ENST00000422285.7:c.739G>A MANE Select	ENSP00000394382.2:p.Asp247Asn
ENST00000379806.9:c.853G>A	ENSP00000369134.5:p.Asp285Asn
ENST00000422285.6:c.739G>A	ENSP00000394382.2:p.Asp247Asn
ENST00000481733.1:n.167G>A
ENST00000540249.5:c.646G>A	ENSP00000440761.1:p.Asp216Asn
ENST00000545074.5:c.760G>A	ENSP00000438550.1:p.Asp254Asn
NM_000284.3:c.739G>A	NP_000275.1:p.Asp247Asn
NM_001173454.1:c.853G>A	NP_001166925.1:p.Asp285Asn
NM_001173455.1:c.760G>A	NP_001166926.1:p.Asp254Asn
NM_001173456.1:c.646G>A	NP_001166927.1:p.Asp216Asn
XM_011545531.1:c.874G>A	XP_011543833.1:p.Asp292Asn
XM_011545532.1:c.781G>A	XP_011543834.1:p.Asp261Asn
XM_017029574.2:c.760G>A	XP_016885063.1:p.Asp254Asn
NM_000284.4:c.739G>A MANE Select	NP_000275.1:p.Asp247Asn
NM_001173454.2:c.853G>A	NP_001166925.1:p.Asp285Asn
NM_001173455.2:c.760G>A	NP_001166926.1:p.Asp254Asn
NM_001173456.2:c.646G>A	NP_001166927.1:p.Asp216Asn