Canonical Allele Identifier: CA2693250984

Gene: PDHA1

Linked Data

• gnomAD v4: X-19357838-A-AGTTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357843_19357847dup , CM000685.2:g.19357843_19357847dup	GRCh38
NC_000023.10:g.19375961_19375965dup , CM000685.1:g.19375961_19375965dup	GRCh37
NC_000023.9:g.19285882_19285886dup	NCBI36
NG_016781.1:g.18951_18955dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.920+124_920+128dup	ENSP00000348062.6:n.920+124_920+128dup
ENST00000379805.4:c.*591+124_*591+128dup	ENSP00000369133.3:n.*591+124_*591+128dup
ENST00000417819.6:c.983+124_983+128dup	ENSP00000404616.2:n.983+124_983+128dup
ENST00000423505.6:c.1013+124_1013+128dup	ENSP00000406473.2:n.1013+124_1013+128dup
ENST00000481733.2:n.694+124_694+128dup
ENST00000696704.1:c.*231+124_*231+128dup	ENSP00000512823.1:n.*231+124_*231+128dup
ENST00000696705.1:c.*354+124_*354+128dup	ENSP00000512824.1:n.*354+124_*354+128dup
ENST00000422285.7:c.899+124_899+128dup MANE Select	ENSP00000394382.2:n.899+124_899+128dup
ENST00000379804.1:c.56+124_56+128dup	ENSP00000369132.1:n.56+124_56+128dup
ENST00000379806.9:c.1013+124_1013+128dup	ENSP00000369134.5:n.1013+124_1013+128dup
ENST00000422285.6:c.899+124_899+128dup	ENSP00000394382.2:n.899+124_899+128dup
ENST00000478795.1:n.338+124_338+128dup
ENST00000481733.1:n.327+124_327+128dup
ENST00000540249.5:c.806+124_806+128dup	ENSP00000440761.1:n.806+124_806+128dup
ENST00000545074.5:c.920+124_920+128dup	ENSP00000438550.1:n.920+124_920+128dup
NM_000284.3:c.899+124_899+128dup	NP_000275.1:n.899+124_899+128dup
NM_001173454.1:c.1013+124_1013+128dup	NP_001166925.1:n.1013+124_1013+128dup
NM_001173455.1:c.920+124_920+128dup	NP_001166926.1:n.920+124_920+128dup
NM_001173456.1:c.806+124_806+128dup	NP_001166927.1:n.806+124_806+128dup
XM_011545531.1:c.1034+124_1034+128dup	XP_011543833.1:n.1034+124_1034+128dup
XM_011545532.1:c.941+124_941+128dup	XP_011543834.1:n.941+124_941+128dup
XM_017029574.2:c.920+124_920+128dup	XP_016885063.1:n.920+124_920+128dup
NM_000284.4:c.899+124_899+128dup MANE Select	NP_000275.1:n.899+124_899+128dup
NM_001173454.2:c.1013+124_1013+128dup	NP_001166925.1:n.1013+124_1013+128dup
NM_001173455.2:c.920+124_920+128dup	NP_001166926.1:n.920+124_920+128dup
NM_001173456.2:c.806+124_806+128dup	NP_001166927.1:n.806+124_806+128dup