Canonical Allele Identifier: CA10363240

Gene: PDHA1

Linked Data

• dbSNP Id: rs756298361
• ExAC: X:19377827 T / TTGGTTA
• gnomAD v2: X-19377827-T-TTGGTTA
• gnomAD v3: X-19359709-T-TTGGTTA
• gnomAD v4: X-19359709-T-TTGGTTA
• MyVariant Identifiers: chrX:g.19377827_19377828insTGGTTA (hg19) ; chrX:g.19359709_19359710insTGGTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359710_19359715dup , CM000685.2:g.19359710_19359715dup	GRCh38
NC_000023.10:g.19377828_19377833dup , CM000685.1:g.19377828_19377833dup	GRCh37
NC_000023.9:g.19287749_19287754dup	NCBI36
NG_016781.1:g.20818_20823dup
NG_021184.1:g.160547_160552dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*57_*62dup	ENSP00000348062.6:n.*57_*62dup
ENST00000379805.4:c.*922_*927dup	ENSP00000369133.3:n.*922_*927dup
ENST00000417819.6:c.*57_*62dup	ENSP00000404616.2:n.*57_*62dup
ENST00000423505.6:c.*57_*62dup	ENSP00000406473.2:n.*57_*62dup
ENST00000481733.2:n.1025_1030dup
ENST00000696704.1:c.*562_*567dup	ENSP00000512823.1:n.*562_*567dup
ENST00000696705.1:c.*685_*690dup	ENSP00000512824.1:n.*685_*690dup
ENST00000422285.7:c.*57_*62dup MANE Select	ENSP00000394382.2:n.*57_*62dup
ENST00000379804.1:c.*57_*62dup	ENSP00000369132.1:n.*57_*62dup
ENST00000379806.9:c.*57_*62dup	ENSP00000369134.5:n.*57_*62dup
ENST00000422285.6:c.*57_*62dup	ENSP00000394382.2:n.*57_*62dup
ENST00000478795.1:n.669_674dup
ENST00000540249.5:c.*57_*62dup	ENSP00000440761.1:n.*57_*62dup
ENST00000545074.5:c.*57_*62dup	ENSP00000438550.1:n.*57_*62dup
NM_000284.3:c.*57_*62dup	NP_000275.1:n.*57_*62dup
NM_001173454.1:c.*57_*62dup	NP_001166925.1:n.*57_*62dup
NM_001173455.1:c.*57_*62dup	NP_001166926.1:n.*57_*62dup
NM_001173456.1:c.*57_*62dup	NP_001166927.1:n.*57_*62dup
XM_011545531.1:c.*57_*62dup	XP_011543833.1:n.*57_*62dup
XM_011545532.1:c.*57_*62dup	XP_011543834.1:n.*57_*62dup
XM_017029574.2:c.*57_*62dup	XP_016885063.1:n.*57_*62dup
NM_000284.4:c.*57_*62dup MANE Select	NP_000275.1:n.*57_*62dup
NM_001173454.2:c.*57_*62dup	NP_001166925.1:n.*57_*62dup
NM_001173455.2:c.*57_*62dup	NP_001166926.1:n.*57_*62dup
NM_001173456.2:c.*57_*62dup	NP_001166927.1:n.*57_*62dup