Canonical Allele Identifier: CA327029813

Gene: PDHA1

Linked Data

• dbSNP Id: rs760098842
• gnomAD v2: X-19376060-T-TAAAG
• gnomAD v3: X-19357942-T-TAAAG
• gnomAD v4: X-19357942-T-TAAAG
• MyVariant Identifiers: chrX:g.19376060_19376061insAAAG (hg19) ; chrX:g.19357942_19357943insAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357948_19357951dup , CM000685.2:g.19357948_19357951dup	GRCh38
NC_000023.10:g.19376066_19376069dup , CM000685.1:g.19376066_19376069dup	GRCh37
NC_000023.9:g.19285987_19285990dup	NCBI36
NG_016781.1:g.19056_19059dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.920+229_920+232dup	ENSP00000348062.6:n.920+229_920+232dup
ENST00000379805.4:c.*591+229_*591+232dup	ENSP00000369133.3:n.*591+229_*591+232dup
ENST00000417819.6:c.983+229_983+232dup	ENSP00000404616.2:n.983+229_983+232dup
ENST00000423505.6:c.1013+229_1013+232dup	ENSP00000406473.2:n.1013+229_1013+232dup
ENST00000481733.2:n.694+229_694+232dup
ENST00000696704.1:c.*231+229_*231+232dup	ENSP00000512823.1:n.*231+229_*231+232dup
ENST00000696705.1:c.*354+229_*354+232dup	ENSP00000512824.1:n.*354+229_*354+232dup
ENST00000422285.7:c.899+229_899+232dup MANE Select	ENSP00000394382.2:n.899+229_899+232dup
ENST00000379804.1:c.56+229_56+232dup	ENSP00000369132.1:n.56+229_56+232dup
ENST00000379806.9:c.1013+229_1013+232dup	ENSP00000369134.5:n.1013+229_1013+232dup
ENST00000422285.6:c.899+229_899+232dup	ENSP00000394382.2:n.899+229_899+232dup
ENST00000478795.1:n.338+229_338+232dup
ENST00000481733.1:n.327+229_327+232dup
ENST00000540249.5:c.806+229_806+232dup	ENSP00000440761.1:n.806+229_806+232dup
ENST00000545074.5:c.920+229_920+232dup	ENSP00000438550.1:n.920+229_920+232dup
NM_000284.3:c.899+229_899+232dup	NP_000275.1:n.899+229_899+232dup
NM_001173454.1:c.1013+229_1013+232dup	NP_001166925.1:n.1013+229_1013+232dup
NM_001173455.1:c.920+229_920+232dup	NP_001166926.1:n.920+229_920+232dup
NM_001173456.1:c.806+229_806+232dup	NP_001166927.1:n.806+229_806+232dup
XM_011545531.1:c.1034+229_1034+232dup	XP_011543833.1:n.1034+229_1034+232dup
XM_011545532.1:c.941+229_941+232dup	XP_011543834.1:n.941+229_941+232dup
XM_017029574.2:c.920+229_920+232dup	XP_016885063.1:n.920+229_920+232dup
NM_000284.4:c.899+229_899+232dup MANE Select	NP_000275.1:n.899+229_899+232dup
NM_001173454.2:c.1013+229_1013+232dup	NP_001166925.1:n.1013+229_1013+232dup
NM_001173455.2:c.920+229_920+232dup	NP_001166926.1:n.920+229_920+232dup
NM_001173456.2:c.806+229_806+232dup	NP_001166927.1:n.806+229_806+232dup