Canonical Allele Identifier: CA873740955

Gene: PDHA1

Linked Data

• dbSNP Id: rs1181944037
• MyVariant Identifiers: chrX:g.19376044_19376045insACAAGCAGCAATTTTT (hg19) ; chrX:g.19357926_19357927insACAAGCAGCAATTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357928_19357943dup , CM000685.2:g.19357928_19357943dup	GRCh38
NC_000023.10:g.19376046_19376061dup , CM000685.1:g.19376046_19376061dup	GRCh37
NC_000023.9:g.19285967_19285982dup	NCBI36
NG_016781.1:g.19036_19051dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.920+209_920+224dup	ENSP00000348062.6:n.920+209_920+224dup
ENST00000379805.4:c.*591+209_*591+224dup	ENSP00000369133.3:n.*591+209_*591+224dup
ENST00000417819.6:c.983+209_983+224dup	ENSP00000404616.2:n.983+209_983+224dup
ENST00000423505.6:c.1013+209_1013+224dup	ENSP00000406473.2:n.1013+209_1013+224dup
ENST00000481733.2:n.694+209_694+224dup
ENST00000696704.1:c.*231+209_*231+224dup	ENSP00000512823.1:n.*231+209_*231+224dup
ENST00000696705.1:c.*354+209_*354+224dup	ENSP00000512824.1:n.*354+209_*354+224dup
ENST00000422285.7:c.899+209_899+224dup MANE Select	ENSP00000394382.2:n.899+209_899+224dup
ENST00000379804.1:c.56+209_56+224dup	ENSP00000369132.1:n.56+209_56+224dup
ENST00000379806.9:c.1013+209_1013+224dup	ENSP00000369134.5:n.1013+209_1013+224dup
ENST00000422285.6:c.899+209_899+224dup	ENSP00000394382.2:n.899+209_899+224dup
ENST00000478795.1:n.338+209_338+224dup
ENST00000481733.1:n.327+209_327+224dup
ENST00000540249.5:c.806+209_806+224dup	ENSP00000440761.1:n.806+209_806+224dup
ENST00000545074.5:c.920+209_920+224dup	ENSP00000438550.1:n.920+209_920+224dup
NM_000284.3:c.899+209_899+224dup	NP_000275.1:n.899+209_899+224dup
NM_001173454.1:c.1013+209_1013+224dup	NP_001166925.1:n.1013+209_1013+224dup
NM_001173455.1:c.920+209_920+224dup	NP_001166926.1:n.920+209_920+224dup
NM_001173456.1:c.806+209_806+224dup	NP_001166927.1:n.806+209_806+224dup
XM_011545531.1:c.1034+209_1034+224dup	XP_011543833.1:n.1034+209_1034+224dup
XM_011545532.1:c.941+209_941+224dup	XP_011543834.1:n.941+209_941+224dup
XM_017029574.2:c.920+209_920+224dup	XP_016885063.1:n.920+209_920+224dup
NM_000284.4:c.899+209_899+224dup MANE Select	NP_000275.1:n.899+209_899+224dup
NM_001173454.2:c.1013+209_1013+224dup	NP_001166925.1:n.1013+209_1013+224dup
NM_001173455.2:c.920+209_920+224dup	NP_001166926.1:n.920+209_920+224dup
NM_001173456.2:c.806+209_806+224dup	NP_001166927.1:n.806+209_806+224dup