Canonical Allele Identifier: CA323036

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 214939
• ClinVar RCV Id: RCV000198524 ; RCV001853189
• dbSNP Id: rs863224149
• MyVariant Identifiers: chrX:g.19369398G>A (hg19) ; chrX:g.19351280G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19351280G>A , CM000685.2:g.19351280G>A	GRCh38
NC_000023.10:g.19369398G>A , CM000685.1:g.19369398G>A	GRCh37
NC_000023.9:g.19279319G>A	NCBI36
NG_016781.1:g.12388G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.312G>A	ENSP00000348062.6:p.Gln104=
ENST00000379805.4:c.292-1G>A	ENSP00000369133.3:n.292-1G>A
ENST00000417819.6:c.376-1G>A	ENSP00000404616.2:n.376-1G>A
ENST00000423505.6:c.406-1G>A	ENSP00000406473.2:n.406-1G>A
ENST00000696704.1:c.292-1G>A	ENSP00000512823.1:n.292-1G>A
ENST00000696705.1:c.292-1G>A	ENSP00000512824.1:n.292-1G>A
ENST00000422285.7:c.292-1G>A MANE Select	ENSP00000394382.2:n.292-1G>A
ENST00000355808.9:c.312G>A	ENSP00000348062.5:p.Gln104=
ENST00000379805.3:c.292-1G>A	ENSP00000369133.3:n.292-1G>A
ENST00000379806.9:c.406-1G>A	ENSP00000369134.5:n.406-1G>A
ENST00000422285.6:c.292-1G>A	ENSP00000394382.2:n.292-1G>A
ENST00000423505.5:c.406-1G>A	ENSP00000406473.1:n.406-1G>A
ENST00000492364.1:n.394-1G>A
ENST00000540249.5:c.292-1G>A	ENSP00000440761.1:n.292-1G>A
ENST00000545074.5:c.312G>A	ENSP00000438550.1:p.Gln104=
NM_000284.3:c.292-1G>A	NP_000275.1:n.292-1G>A
NM_001173454.1:c.406-1G>A	NP_001166925.1:n.406-1G>A
NM_001173455.1:c.312G>A	NP_001166926.1:p.Gln104=
NM_001173456.1:c.292-1G>A	NP_001166927.1:n.292-1G>A
XM_011545531.1:c.426G>A	XP_011543833.1:p.Gln142=
XM_011545532.1:c.426G>A	XP_011543834.1:p.Gln142=
XM_017029574.2:c.406-1G>A	XP_016885063.1:n.406-1G>A
NM_000284.4:c.292-1G>A MANE Select	NP_000275.1:n.292-1G>A
NM_001173454.2:c.406-1G>A	NP_001166925.1:n.406-1G>A
NM_001173455.2:c.312G>A	NP_001166926.1:p.Gln104=
NM_001173456.2:c.292-1G>A	NP_001166927.1:n.292-1G>A