Canonical Allele Identifier: CA640522500

Gene: PDHA1

Linked Data

• dbSNP Id: rs1183373629
• gnomAD v2: X-19376612-C-CTAAT
• gnomAD v3: X-19358494-C-CTAAT
• gnomAD v4: X-19358494-C-CTAAT
• MyVariant Identifiers: chrX:g.19376612_19376613insTAAT (hg19) ; chrX:g.19358494_19358495insTAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358497_19358500dup , CM000685.2:g.19358497_19358500dup	GRCh38
NC_000023.10:g.19376615_19376618dup , CM000685.1:g.19376615_19376618dup	GRCh37
NC_000023.9:g.19286536_19286539dup	NCBI36
NG_016781.1:g.19605_19608dup
NG_021184.1:g.161764_161767dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.921-419_921-416dup	ENSP00000348062.6:n.921-419_921-416dup
ENST00000379805.4:c.*592-419_*592-416dup	ENSP00000369133.3:n.*592-419_*592-416dup
ENST00000417819.6:c.984-419_984-416dup	ENSP00000404616.2:n.984-419_984-416dup
ENST00000423505.6:c.1014-419_1014-416dup	ENSP00000406473.2:n.1014-419_1014-416dup
ENST00000481733.2:n.695-419_695-416dup
ENST00000696704.1:c.*232-419_*232-416dup	ENSP00000512823.1:n.*232-419_*232-416dup
ENST00000696705.1:c.*355-419_*355-416dup	ENSP00000512824.1:n.*355-419_*355-416dup
ENST00000422285.7:c.900-419_900-416dup MANE Select	ENSP00000394382.2:n.900-419_900-416dup
ENST00000379804.1:c.57-419_57-416dup	ENSP00000369132.1:n.57-419_57-416dup
ENST00000379806.9:c.1014-419_1014-416dup	ENSP00000369134.5:n.1014-419_1014-416dup
ENST00000422285.6:c.900-419_900-416dup	ENSP00000394382.2:n.900-419_900-416dup
ENST00000478795.1:n.339-419_339-416dup
ENST00000481733.1:n.328-419_328-416dup
ENST00000540249.5:c.807-419_807-416dup	ENSP00000440761.1:n.807-419_807-416dup
ENST00000545074.5:c.921-419_921-416dup	ENSP00000438550.1:n.921-419_921-416dup
NM_000284.3:c.900-419_900-416dup	NP_000275.1:n.900-419_900-416dup
NM_001173454.1:c.1014-419_1014-416dup	NP_001166925.1:n.1014-419_1014-416dup
NM_001173455.1:c.921-419_921-416dup	NP_001166926.1:n.921-419_921-416dup
NM_001173456.1:c.807-419_807-416dup	NP_001166927.1:n.807-419_807-416dup
XM_011545531.1:c.1035-419_1035-416dup	XP_011543833.1:n.1035-419_1035-416dup
XM_011545532.1:c.942-419_942-416dup	XP_011543834.1:n.942-419_942-416dup
XM_017029574.2:c.921-419_921-416dup	XP_016885063.1:n.921-419_921-416dup
NM_000284.4:c.900-419_900-416dup MANE Select	NP_000275.1:n.900-419_900-416dup
NM_001173454.2:c.1014-419_1014-416dup	NP_001166925.1:n.1014-419_1014-416dup
NM_001173455.2:c.921-419_921-416dup	NP_001166926.1:n.921-419_921-416dup
NM_001173456.2:c.807-419_807-416dup	NP_001166927.1:n.807-419_807-416dup