Canonical Allele Identifier: CA2418224748

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063215870

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357992_19358017dup , CM000685.2:g.19357992_19358017dup	GRCh38
NC_000023.10:g.19376110_19376135dup , CM000685.1:g.19376110_19376135dup	GRCh37
NC_000023.9:g.19286031_19286056dup	NCBI36
NG_016781.1:g.19100_19125dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.920+273_920+298dup	ENSP00000348062.6:n.920+273_920+298dup
ENST00000379805.4:c.*591+273_*591+298dup	ENSP00000369133.3:n.*591+273_*591+298dup
ENST00000417819.6:c.983+273_983+298dup	ENSP00000404616.2:n.983+273_983+298dup
ENST00000423505.6:c.1013+273_1013+298dup	ENSP00000406473.2:n.1013+273_1013+298dup
ENST00000481733.2:n.694+273_694+298dup
ENST00000696704.1:c.*231+273_*231+298dup	ENSP00000512823.1:n.*231+273_*231+298dup
ENST00000696705.1:c.*354+273_*354+298dup	ENSP00000512824.1:n.*354+273_*354+298dup
ENST00000422285.7:c.899+273_899+298dup MANE Select	ENSP00000394382.2:n.899+273_899+298dup
ENST00000379804.1:c.56+273_56+298dup	ENSP00000369132.1:n.56+273_56+298dup
ENST00000379806.9:c.1013+273_1013+298dup	ENSP00000369134.5:n.1013+273_1013+298dup
ENST00000422285.6:c.899+273_899+298dup	ENSP00000394382.2:n.899+273_899+298dup
ENST00000478795.1:n.338+273_338+298dup
ENST00000481733.1:n.327+273_327+298dup
ENST00000540249.5:c.806+273_806+298dup	ENSP00000440761.1:n.806+273_806+298dup
ENST00000545074.5:c.920+273_920+298dup	ENSP00000438550.1:n.920+273_920+298dup
NM_000284.3:c.899+273_899+298dup	NP_000275.1:n.899+273_899+298dup
NM_001173454.1:c.1013+273_1013+298dup	NP_001166925.1:n.1013+273_1013+298dup
NM_001173455.1:c.920+273_920+298dup	NP_001166926.1:n.920+273_920+298dup
NM_001173456.1:c.806+273_806+298dup	NP_001166927.1:n.806+273_806+298dup
XM_011545531.1:c.1034+273_1034+298dup	XP_011543833.1:n.1034+273_1034+298dup
XM_011545532.1:c.941+273_941+298dup	XP_011543834.1:n.941+273_941+298dup
XM_017029574.2:c.920+273_920+298dup	XP_016885063.1:n.920+273_920+298dup
NM_000284.4:c.899+273_899+298dup MANE Select	NP_000275.1:n.899+273_899+298dup
NM_001173454.2:c.1013+273_1013+298dup	NP_001166925.1:n.1013+273_1013+298dup
NM_001173455.2:c.920+273_920+298dup	NP_001166926.1:n.920+273_920+298dup
NM_001173456.2:c.806+273_806+298dup	NP_001166927.1:n.806+273_806+298dup