Canonical Allele Identifier: CA873741693

Gene: PDHA1

Linked Data

• dbSNP Id: rs1394243511
• MyVariant Identifiers: chrX:g.19376876_19376877insTAGTGACATAAGCAT (hg19) ; chrX:g.19358758_19358759insTAGTGACATAAGCAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358760_19358774dup , CM000685.2:g.19358760_19358774dup	GRCh38
NC_000023.10:g.19376878_19376892dup , CM000685.1:g.19376878_19376892dup	GRCh37
NC_000023.9:g.19286799_19286813dup	NCBI36
NG_016781.1:g.19868_19882dup
NG_021184.1:g.161489_161503dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.921-156_921-142dup	ENSP00000348062.6:n.921-156_921-142dup
ENST00000379805.4:c.*592-156_*592-142dup	ENSP00000369133.3:n.*592-156_*592-142dup
ENST00000417819.6:c.984-156_984-142dup	ENSP00000404616.2:n.984-156_984-142dup
ENST00000423505.6:c.1014-156_1014-142dup	ENSP00000406473.2:n.1014-156_1014-142dup
ENST00000481733.2:n.695-156_695-142dup
ENST00000696704.1:c.*232-156_*232-142dup	ENSP00000512823.1:n.*232-156_*232-142dup
ENST00000696705.1:c.*355-156_*355-142dup	ENSP00000512824.1:n.*355-156_*355-142dup
ENST00000422285.7:c.900-156_900-142dup MANE Select	ENSP00000394382.2:n.900-156_900-142dup
ENST00000379804.1:c.57-156_57-142dup	ENSP00000369132.1:n.57-156_57-142dup
ENST00000379806.9:c.1014-156_1014-142dup	ENSP00000369134.5:n.1014-156_1014-142dup
ENST00000422285.6:c.900-156_900-142dup	ENSP00000394382.2:n.900-156_900-142dup
ENST00000478795.1:n.339-156_339-142dup
ENST00000481733.1:n.328-156_328-142dup
ENST00000540249.5:c.807-156_807-142dup	ENSP00000440761.1:n.807-156_807-142dup
ENST00000545074.5:c.921-156_921-142dup	ENSP00000438550.1:n.921-156_921-142dup
NM_000284.3:c.900-156_900-142dup	NP_000275.1:n.900-156_900-142dup
NM_001173454.1:c.1014-156_1014-142dup	NP_001166925.1:n.1014-156_1014-142dup
NM_001173455.1:c.921-156_921-142dup	NP_001166926.1:n.921-156_921-142dup
NM_001173456.1:c.807-156_807-142dup	NP_001166927.1:n.807-156_807-142dup
XM_011545531.1:c.1035-156_1035-142dup	XP_011543833.1:n.1035-156_1035-142dup
XM_011545532.1:c.942-156_942-142dup	XP_011543834.1:n.942-156_942-142dup
XM_017029574.2:c.921-156_921-142dup	XP_016885063.1:n.921-156_921-142dup
NM_000284.4:c.900-156_900-142dup MANE Select	NP_000275.1:n.900-156_900-142dup
NM_001173454.2:c.1014-156_1014-142dup	NP_001166925.1:n.1014-156_1014-142dup
NM_001173455.2:c.921-156_921-142dup	NP_001166926.1:n.921-156_921-142dup
NM_001173456.2:c.807-156_807-142dup	NP_001166927.1:n.807-156_807-142dup