Canonical Allele Identifier: CA327031689

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 1226375
• ClinVar RCV Id: RCV001615640
• dbSNP Id: rs200632554
• gnomAD v2: X-19378059-CCCAGCCA-C
• gnomAD v3: X-19359941-CCCAGCCA-C
• gnomAD v4: X-19359941-CCCAGCCA-C
• MyVariant Identifiers: chrX:g.19378060_19378066del (hg19) ; chrX:g.19359942_19359948del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359944_19359950del , CM000685.2:g.19359944_19359950del	GRCh38
NC_000023.10:g.19378062_19378068del , CM000685.1:g.19378062_19378068del	GRCh37
NC_000023.9:g.19287983_19287989del	NCBI36
NG_016781.1:g.21052_21058del
NG_021184.1:g.160314_160320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*291_*297del	ENSP00000348062.6:n.*291_*297del
ENST00000423505.6:c.*291_*297del	ENSP00000406473.2:n.*291_*297del
ENST00000696704.1:c.*796_*802del	ENSP00000512823.1:n.*796_*802del
ENST00000696705.1:c.*919_*925del	ENSP00000512824.1:n.*919_*925del
ENST00000422285.7:c.*291_*297del MANE Select	ENSP00000394382.2:n.*291_*297del
ENST00000379806.9:c.*291_*297del	ENSP00000369134.5:n.*291_*297del
ENST00000422285.6:c.*291_*297del	ENSP00000394382.2:n.*291_*297del
ENST00000540249.5:c.*291_*297del	ENSP00000440761.1:n.*291_*297del
ENST00000545074.5:c.*291_*297del	ENSP00000438550.1:n.*291_*297del
NM_000284.3:c.*291_*297del	NP_000275.1:n.*291_*297del
NM_001173454.1:c.*291_*297del	NP_001166925.1:n.*291_*297del
NM_001173455.1:c.*291_*297del	NP_001166926.1:n.*291_*297del
NM_001173456.1:c.*291_*297del	NP_001166927.1:n.*291_*297del
XM_011545531.1:c.*291_*297del	XP_011543833.1:n.*291_*297del
XM_011545532.1:c.*291_*297del	XP_011543834.1:n.*291_*297del
NM_000284.4:c.*291_*297del MANE Select	NP_000275.1:n.*291_*297del
NM_001173454.2:c.*291_*297del	NP_001166925.1:n.*291_*297del
NM_001173455.2:c.*291_*297del	NP_001166926.1:n.*291_*297del
NM_001173456.2:c.*291_*297del	NP_001166927.1:n.*291_*297del