Canonical Allele Identifier: CA16621292
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419850
ClinVar RCV Id: RCV000481593 RCV001216859
dbSNP Id: rs1064794149
gnomAD v4: X-19358921-G-A
MyVariant Identifiers: chrX:g.19377039G>A (hg19) chrX:g.19358921G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19358921G>A , CM000685.2:g.19358921G>A GRCh38
NC_000023.10:g.19377039G>A , CM000685.1:g.19377039G>A GRCh37
NC_000023.9:g.19286960G>A NCBI36
NG_016781.1:g.20029G>A
NG_021184.1:g.161341C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.926G>A ENSP00000348062.6:p.Arg309His
ENST00000379805.4:c.*597G>A ENSP00000369133.3:n.*597G>A
ENST00000417819.6:c.989G>A ENSP00000404616.2:p.Arg330His
ENST00000423505.6:c.1019G>A ENSP00000406473.2:p.Arg340His
ENST00000481733.2:n.700G>A
ENST00000696704.1:c.*237G>A ENSP00000512823.1:n.*237G>A
ENST00000696705.1:c.*360G>A ENSP00000512824.1:n.*360G>A
ENST00000422285.7:c.905G>A MANE Select ENSP00000394382.2:p.Arg302His
ENST00000379804.1:c.62G>A ENSP00000369132.1:p.Arg21His
ENST00000379806.9:c.1019G>A ENSP00000369134.5:p.Arg340His
ENST00000422285.6:c.905G>A ENSP00000394382.2:p.Arg302His
ENST00000478795.1:n.344G>A
ENST00000481733.1:n.333G>A
ENST00000540249.5:c.812G>A ENSP00000440761.1:p.Arg271His
ENST00000545074.5:c.926G>A ENSP00000438550.1:p.Arg309His
NM_000284.3:c.905G>A NP_000275.1:p.Arg302His
NM_001173454.1:c.1019G>A NP_001166925.1:p.Arg340His
NM_001173455.1:c.926G>A NP_001166926.1:p.Arg309His
NM_001173456.1:c.812G>A NP_001166927.1:p.Arg271His
XM_011545531.1:c.1040G>A XP_011543833.1:p.Arg347His
XM_011545532.1:c.947G>A XP_011543834.1:p.Arg316His
XM_017029574.2:c.926G>A XP_016885063.1:p.Arg309His
NM_000284.4:c.905G>A MANE Select NP_000275.1:p.Arg302His
NM_001173454.2:c.1019G>A NP_001166925.1:p.Arg340His
NM_001173455.2:c.926G>A NP_001166926.1:p.Arg309His
NM_001173456.2:c.812G>A NP_001166927.1:p.Arg271His
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