Canonical Allele Identifier: CA640522284

Gene: PDHA1

Linked Data

• dbSNP Id: rs1195780330
• gnomAD v2: X-19376057-T-TTTTAAAGAAAGAGTGTTATATACC
• gnomAD v3: X-19357939-T-TTTTAAAGAAAGAGTGTTATATACC
• gnomAD v4: X-19357939-T-TTTTAAAGAAAGAGTGTTATATACC
• MyVariant Identifiers: chrX:g.19376057_19376058insTTTAAAGAAAGAGTGTTATATACC (hg19) ; chrX:g.19357939_19357940insTTTAAAGAAAGAGTGTTATATACC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357942_19357965dup , CM000685.2:g.19357942_19357965dup	GRCh38
NC_000023.10:g.19376060_19376083dup , CM000685.1:g.19376060_19376083dup	GRCh37
NC_000023.9:g.19285981_19286004dup	NCBI36
NG_016781.1:g.19050_19073dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.920+223_920+246dup	ENSP00000348062.6:n.920+223_920+246dup
ENST00000379805.4:c.*591+223_*591+246dup	ENSP00000369133.3:n.*591+223_*591+246dup
ENST00000417819.6:c.983+223_983+246dup	ENSP00000404616.2:n.983+223_983+246dup
ENST00000423505.6:c.1013+223_1013+246dup	ENSP00000406473.2:n.1013+223_1013+246dup
ENST00000481733.2:n.694+223_694+246dup
ENST00000696704.1:c.*231+223_*231+246dup	ENSP00000512823.1:n.*231+223_*231+246dup
ENST00000696705.1:c.*354+223_*354+246dup	ENSP00000512824.1:n.*354+223_*354+246dup
ENST00000422285.7:c.899+223_899+246dup MANE Select	ENSP00000394382.2:n.899+223_899+246dup
ENST00000379804.1:c.56+223_56+246dup	ENSP00000369132.1:n.56+223_56+246dup
ENST00000379806.9:c.1013+223_1013+246dup	ENSP00000369134.5:n.1013+223_1013+246dup
ENST00000422285.6:c.899+223_899+246dup	ENSP00000394382.2:n.899+223_899+246dup
ENST00000478795.1:n.338+223_338+246dup
ENST00000481733.1:n.327+223_327+246dup
ENST00000540249.5:c.806+223_806+246dup	ENSP00000440761.1:n.806+223_806+246dup
ENST00000545074.5:c.920+223_920+246dup	ENSP00000438550.1:n.920+223_920+246dup
NM_000284.3:c.899+223_899+246dup	NP_000275.1:n.899+223_899+246dup
NM_001173454.1:c.1013+223_1013+246dup	NP_001166925.1:n.1013+223_1013+246dup
NM_001173455.1:c.920+223_920+246dup	NP_001166926.1:n.920+223_920+246dup
NM_001173456.1:c.806+223_806+246dup	NP_001166927.1:n.806+223_806+246dup
XM_011545531.1:c.1034+223_1034+246dup	XP_011543833.1:n.1034+223_1034+246dup
XM_011545532.1:c.941+223_941+246dup	XP_011543834.1:n.941+223_941+246dup
XM_017029574.2:c.920+223_920+246dup	XP_016885063.1:n.920+223_920+246dup
NM_000284.4:c.899+223_899+246dup MANE Select	NP_000275.1:n.899+223_899+246dup
NM_001173454.2:c.1013+223_1013+246dup	NP_001166925.1:n.1013+223_1013+246dup
NM_001173455.2:c.920+223_920+246dup	NP_001166926.1:n.920+223_920+246dup
NM_001173456.2:c.806+223_806+246dup	NP_001166927.1:n.806+223_806+246dup