Canonical Allele Identifier: CA10363032

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 1164884
• ClinVar RCV Id: RCV001511416
• dbSNP Id: rs779583146
• ExAC: X:19369533 G / A
• gnomAD v2: X-19369533-G-A
• gnomAD v3: X-19351415-G-A
• gnomAD v4: X-19351415-G-A
• MyVariant Identifiers: chrX:g.19369533G>A (hg19) ; chrX:g.19351415G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19351415G>A , CM000685.2:g.19351415G>A	GRCh38
NC_000023.10:g.19369533G>A , CM000685.1:g.19369533G>A	GRCh37
NC_000023.9:g.19279454G>A	NCBI36
NG_016781.1:g.12523G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.439+8G>A	ENSP00000348062.6:n.439+8G>A
ENST00000379805.4:c.418+8G>A	ENSP00000369133.3:n.418+8G>A
ENST00000417819.6:c.502+8G>A	ENSP00000404616.2:n.502+8G>A
ENST00000423505.6:c.532+8G>A	ENSP00000406473.2:n.532+8G>A
ENST00000696704.1:c.418+8G>A	ENSP00000512823.1:n.418+8G>A
ENST00000696705.1:c.418+8G>A	ENSP00000512824.1:n.418+8G>A
ENST00000422285.7:c.418+8G>A MANE Select	ENSP00000394382.2:n.418+8G>A
ENST00000355808.9:c.439+8G>A	ENSP00000348062.5:n.439+8G>A
ENST00000379805.3:c.418+8G>A	ENSP00000369133.3:n.418+8G>A
ENST00000379806.9:c.532+8G>A	ENSP00000369134.5:n.532+8G>A
ENST00000422285.6:c.418+8G>A	ENSP00000394382.2:n.418+8G>A
ENST00000423505.5:c.532+8G>A	ENSP00000406473.1:n.532+8G>A
ENST00000492364.1:n.528G>A
ENST00000540249.5:c.418+8G>A	ENSP00000440761.1:n.418+8G>A
ENST00000545074.5:c.439+8G>A	ENSP00000438550.1:n.439+8G>A
NM_000284.3:c.418+8G>A	NP_000275.1:n.418+8G>A
NM_001173454.1:c.532+8G>A	NP_001166925.1:n.532+8G>A
NM_001173455.1:c.439+8G>A	NP_001166926.1:n.439+8G>A
NM_001173456.1:c.418+8G>A	NP_001166927.1:n.418+8G>A
XM_011545531.1:c.553+8G>A	XP_011543833.1:n.553+8G>A
XM_011545532.1:c.553+8G>A	XP_011543834.1:n.553+8G>A
XM_017029574.2:c.532+8G>A	XP_016885063.1:n.532+8G>A
NM_000284.4:c.418+8G>A MANE Select	NP_000275.1:n.418+8G>A
NM_001173454.2:c.532+8G>A	NP_001166925.1:n.532+8G>A
NM_001173455.2:c.439+8G>A	NP_001166926.1:n.439+8G>A
NM_001173456.2:c.418+8G>A	NP_001166927.1:n.418+8G>A