Canonical Allele Identifier: CA10363130

Gene: PDHA1

Linked Data

• dbSNP Id: rs1555934831
• ExAC: X:19375737 T / TAACTA
• gnomAD v2: X-19375737-T-TAACTA
• gnomAD v4: X-19357619-T-TAACTA
• MyVariant Identifiers: chrX:g.19375737_19375738insAACTA (hg19) ; chrX:g.19357619_19357620insAACTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357621_19357625dup , CM000685.2:g.19357621_19357625dup	GRCh38
NC_000023.10:g.19375739_19375743dup , CM000685.1:g.19375739_19375743dup	GRCh37
NC_000023.9:g.19285660_19285664dup	NCBI36
NG_016781.1:g.18729_18733dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.853-31_853-27dup	ENSP00000348062.6:n.853-31_853-27dup
ENST00000379805.4:c.*524-31_*524-27dup	ENSP00000369133.3:n.*524-31_*524-27dup
ENST00000417819.6:c.916-31_916-27dup	ENSP00000404616.2:n.916-31_916-27dup
ENST00000423505.6:c.946-31_946-27dup	ENSP00000406473.2:n.946-31_946-27dup
ENST00000481733.2:n.627-31_627-27dup
ENST00000696704.1:c.*164-31_*164-27dup	ENSP00000512823.1:n.*164-31_*164-27dup
ENST00000696705.1:c.*287-31_*287-27dup	ENSP00000512824.1:n.*287-31_*287-27dup
ENST00000422285.7:c.832-31_832-27dup MANE Select	ENSP00000394382.2:n.832-31_832-27dup
ENST00000379804.1:c.-12-31_-12-27dup	ENSP00000369132.1:n.-12-31_-12-27dup
ENST00000379806.9:c.946-31_946-27dup	ENSP00000369134.5:n.946-31_946-27dup
ENST00000422285.6:c.832-31_832-27dup	ENSP00000394382.2:n.832-31_832-27dup
ENST00000478795.1:n.240_244dup
ENST00000481733.1:n.260-31_260-27dup
ENST00000540249.5:c.739-31_739-27dup	ENSP00000440761.1:n.739-31_739-27dup
ENST00000545074.5:c.853-31_853-27dup	ENSP00000438550.1:n.853-31_853-27dup
NM_000284.3:c.832-31_832-27dup	NP_000275.1:n.832-31_832-27dup
NM_001173454.1:c.946-31_946-27dup	NP_001166925.1:n.946-31_946-27dup
NM_001173455.1:c.853-31_853-27dup	NP_001166926.1:n.853-31_853-27dup
NM_001173456.1:c.739-31_739-27dup	NP_001166927.1:n.739-31_739-27dup
XM_011545531.1:c.967-31_967-27dup	XP_011543833.1:n.967-31_967-27dup
XM_011545532.1:c.874-31_874-27dup	XP_011543834.1:n.874-31_874-27dup
XM_017029574.2:c.853-31_853-27dup	XP_016885063.1:n.853-31_853-27dup
NM_000284.4:c.832-31_832-27dup MANE Select	NP_000275.1:n.832-31_832-27dup
NM_001173454.2:c.946-31_946-27dup	NP_001166925.1:n.946-31_946-27dup
NM_001173455.2:c.853-31_853-27dup	NP_001166926.1:n.853-31_853-27dup
NM_001173456.2:c.739-31_739-27dup	NP_001166927.1:n.739-31_739-27dup