Canonical Allele Identifier: CA292722

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 138647
• ClinVar RCV Id: RCV000127401 ; RCV002055743
• dbSNP Id: rs376730441
• ExAC: X:19375849 G / A
• gnomAD v2: X-19375849-G-A
• gnomAD v3: X-19357731-G-A
• gnomAD v4: X-19357731-G-A
• MyVariant Identifiers: chrX:g.19375849G>A (hg19) ; chrX:g.19357731G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357731G>A , CM000685.2:g.19357731G>A	GRCh38
NC_000023.10:g.19375849G>A , CM000685.1:g.19375849G>A	GRCh37
NC_000023.9:g.19285770G>A	NCBI36
NG_016781.1:g.18839G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.920+12G>A	ENSP00000348062.6:n.920+12G>A
ENST00000379805.4:c.*591+12G>A	ENSP00000369133.3:n.*591+12G>A
ENST00000417819.6:c.983+12G>A	ENSP00000404616.2:n.983+12G>A
ENST00000423505.6:c.1013+12G>A	ENSP00000406473.2:n.1013+12G>A
ENST00000481733.2:n.694+12G>A
ENST00000696704.1:c.*231+12G>A	ENSP00000512823.1:n.*231+12G>A
ENST00000696705.1:c.*354+12G>A	ENSP00000512824.1:n.*354+12G>A
ENST00000422285.7:c.899+12G>A MANE Select	ENSP00000394382.2:n.899+12G>A
ENST00000379804.1:c.56+12G>A	ENSP00000369132.1:n.56+12G>A
ENST00000379806.9:c.1013+12G>A	ENSP00000369134.5:n.1013+12G>A
ENST00000422285.6:c.899+12G>A	ENSP00000394382.2:n.899+12G>A
ENST00000478795.1:n.338+12G>A
ENST00000481733.1:n.327+12G>A
ENST00000540249.5:c.806+12G>A	ENSP00000440761.1:n.806+12G>A
ENST00000545074.5:c.920+12G>A	ENSP00000438550.1:n.920+12G>A
NM_000284.3:c.899+12G>A	NP_000275.1:n.899+12G>A
NM_001173454.1:c.1013+12G>A	NP_001166925.1:n.1013+12G>A
NM_001173455.1:c.920+12G>A	NP_001166926.1:n.920+12G>A
NM_001173456.1:c.806+12G>A	NP_001166927.1:n.806+12G>A
XM_011545531.1:c.1034+12G>A	XP_011543833.1:n.1034+12G>A
XM_011545532.1:c.941+12G>A	XP_011543834.1:n.941+12G>A
XM_017029574.2:c.920+12G>A	XP_016885063.1:n.920+12G>A
NM_000284.4:c.899+12G>A MANE Select	NP_000275.1:n.899+12G>A
NM_001173454.2:c.1013+12G>A	NP_001166925.1:n.1013+12G>A
NM_001173455.2:c.920+12G>A	NP_001166926.1:n.920+12G>A
NM_001173456.2:c.806+12G>A	NP_001166927.1:n.806+12G>A