Canonical Allele Identifier: CA10363224

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 421578
• ClinVar RCV Id: RCV000481535 ; RCV000887200 ; RCV001704633 ; RCV001834564
• dbSNP Id: rs762505127
• ExAC: X:19377769 TAAGGGG / T
• gnomAD v2: X-19377769-TAAGGGG-T
• gnomAD v3: X-19359651-TAAGGGG-T
• gnomAD v4: X-19359651-TAAGGGG-T
• MyVariant Identifiers: chrX:g.19377771_19377776del (hg19) ; chrX:g.19377770_19377775del (hg19) ; chrX:g.19377771_19377780delinsGGAG (hg19) ; chrX:g.19359653_19359658del (hg38) ; chrX:g.19359652_19359657del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359653_19359658del , CM000685.2:g.19359653_19359658del	GRCh38
NC_000023.10:g.19377771_19377776del , CM000685.1:g.19377771_19377776del	GRCh37
NC_000023.9:g.19287692_19287697del	NCBI36
NG_016781.1:g.20761_20766del
NG_021184.1:g.160605_160610del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1194_*5del	ENSP00000348062.6:n.[c.1194_*5del;Ter398=]
ENST00000379805.4:c.*865_*870del	ENSP00000369133.3:n.*865_*870del
ENST00000417819.6:c.1257_*5del	ENSP00000404616.2:n.[c.1257_*5del;Ter419=]
ENST00000423505.6:c.1287_*5del	ENSP00000406473.2:n.[c.1287_*5del;Ter429=]
ENST00000481733.2:n.968_973del
ENST00000696704.1:c.*505_*510del	ENSP00000512823.1:n.*505_*510del
ENST00000696705.1:c.*628_*633del	ENSP00000512824.1:n.*628_*633del
ENST00000422285.7:c.1173_*5del MANE Select	ENSP00000394382.2:n.[c.1173_*5del;Ter391=]
ENST00000379804.1:c.330_*5del	ENSP00000369132.1:n.[c.330_*5del;Ter110=]
ENST00000379806.9:c.1287_*5del	ENSP00000369134.5:n.[c.1287_*5del;Ter429=]
ENST00000422285.6:c.1173_*5del	ENSP00000394382.2:n.[c.1173_*5del;Ter391=]
ENST00000478795.1:n.612_617del
ENST00000540249.5:c.1080_*5del	ENSP00000440761.1:n.[c.1080_*5del;Ter360=]
ENST00000545074.5:c.1194_*5del	ENSP00000438550.1:n.[c.1194_*5del;Ter398=]
NM_000284.3:c.1173_*5del	NP_000275.1:n.[c.1173_*5del;Ter391=]
NM_001173454.1:c.1287_*5del	NP_001166925.1:n.[c.1287_*5del;Ter429=]
NM_001173455.1:c.1194_*5del	NP_001166926.1:n.[c.1194_*5del;Ter398=]
NM_001173456.1:c.1080_*5del	NP_001166927.1:n.[c.1080_*5del;Ter360=]
XM_011545531.1:c.1308_*5del	XP_011543833.1:n.[c.1308_*5del;Ter436=]
XM_011545532.1:c.1215_*5del	XP_011543834.1:n.[c.1215_*5del;Ter405=]
XM_017029574.2:c.1194_*5del	XP_016885063.1:n.[c.1194_*5del;Ter398=]
NM_000284.4:c.1173_*5del MANE Select	NP_000275.1:n.[c.1173_*5del;Ter391=]
NM_001173454.2:c.1287_*5del	NP_001166925.1:n.[c.1287_*5del;Ter429=]
NM_001173455.2:c.1194_*5del	NP_001166926.1:n.[c.1194_*5del;Ter398=]
NM_001173456.2:c.1080_*5del	NP_001166927.1:n.[c.1080_*5del;Ter360=]