Canonical Allele Identifier: CA10363257

Gene: PDHA1

Linked Data

• dbSNP Id: rs779812493
• ExAC: X:19377887 T / TTAAG
• gnomAD v2: X-19377887-T-TTAAG
• gnomAD v3: X-19359769-T-TTAAG
• gnomAD v4: X-19359769-T-TTAAG
• MyVariant Identifiers: chrX:g.19377887_19377888insTAAG (hg19) ; chrX:g.19359769_19359770insTAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359771_19359774dup , CM000685.2:g.19359771_19359774dup	GRCh38
NC_000023.10:g.19377889_19377892dup , CM000685.1:g.19377889_19377892dup	GRCh37
NC_000023.9:g.19287810_19287813dup	NCBI36
NG_016781.1:g.20879_20882dup
NG_021184.1:g.160489_160492dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*118_*121dup	ENSP00000348062.6:n.*118_*121dup
ENST00000379805.4:c.*983_*986dup	ENSP00000369133.3:n.*983_*986dup
ENST00000417819.6:c.*118_*121dup	ENSP00000404616.2:n.*118_*121dup
ENST00000423505.6:c.*118_*121dup	ENSP00000406473.2:n.*118_*121dup
ENST00000481733.2:n.1086_1089dup
ENST00000696704.1:c.*623_*626dup	ENSP00000512823.1:n.*623_*626dup
ENST00000696705.1:c.*746_*749dup	ENSP00000512824.1:n.*746_*749dup
ENST00000422285.7:c.*118_*121dup MANE Select	ENSP00000394382.2:n.*118_*121dup
ENST00000379804.1:c.*118_*121dup	ENSP00000369132.1:n.*118_*121dup
ENST00000379806.9:c.*118_*121dup	ENSP00000369134.5:n.*118_*121dup
ENST00000422285.6:c.*118_*121dup	ENSP00000394382.2:n.*118_*121dup
ENST00000478795.1:n.730_733dup
ENST00000540249.5:c.*118_*121dup	ENSP00000440761.1:n.*118_*121dup
ENST00000545074.5:c.*118_*121dup	ENSP00000438550.1:n.*118_*121dup
NM_000284.3:c.*118_*121dup	NP_000275.1:n.*118_*121dup
NM_001173454.1:c.*118_*121dup	NP_001166925.1:n.*118_*121dup
NM_001173455.1:c.*118_*121dup	NP_001166926.1:n.*118_*121dup
NM_001173456.1:c.*118_*121dup	NP_001166927.1:n.*118_*121dup
XM_011545531.1:c.*118_*121dup	XP_011543833.1:n.*118_*121dup
XM_011545532.1:c.*118_*121dup	XP_011543834.1:n.*118_*121dup
XM_017029574.2:c.*118_*121dup	XP_016885063.1:n.*118_*121dup
NM_000284.4:c.*118_*121dup MANE Select	NP_000275.1:n.*118_*121dup
NM_001173454.2:c.*118_*121dup	NP_001166925.1:n.*118_*121dup
NM_001173455.2:c.*118_*121dup	NP_001166926.1:n.*118_*121dup
NM_001173456.2:c.*118_*121dup	NP_001166927.1:n.*118_*121dup