Canonical Allele Identifier: CA2418225743

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063254486
• gnomAD v4: X-19359793-G-GTAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359795_19359798dup , CM000685.2:g.19359795_19359798dup	GRCh38
NC_000023.10:g.19377913_19377916dup , CM000685.1:g.19377913_19377916dup	GRCh37
NC_000023.9:g.19287834_19287837dup	NCBI36
NG_016781.1:g.20903_20906dup
NG_021184.1:g.160465_160468dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*142_*145dup	ENSP00000348062.6:n.*142_*145dup
ENST00000379805.4:c.*1007_*1010dup	ENSP00000369133.3:n.*1007_*1010dup
ENST00000417819.6:c.*142_*145dup	ENSP00000404616.2:n.*142_*145dup
ENST00000423505.6:c.*142_*145dup	ENSP00000406473.2:n.*142_*145dup
ENST00000481733.2:n.1110_1113dup
ENST00000696704.1:c.*647_*650dup	ENSP00000512823.1:n.*647_*650dup
ENST00000696705.1:c.*770_*773dup	ENSP00000512824.1:n.*770_*773dup
ENST00000422285.7:c.*142_*145dup MANE Select	ENSP00000394382.2:n.*142_*145dup
ENST00000379804.1:c.*142_*145dup	ENSP00000369132.1:n.*142_*145dup
ENST00000379806.9:c.*142_*145dup	ENSP00000369134.5:n.*142_*145dup
ENST00000422285.6:c.*142_*145dup	ENSP00000394382.2:n.*142_*145dup
ENST00000478795.1:n.754_757dup
ENST00000540249.5:c.*142_*145dup	ENSP00000440761.1:n.*142_*145dup
ENST00000545074.5:c.*142_*145dup	ENSP00000438550.1:n.*142_*145dup
NM_000284.3:c.*142_*145dup	NP_000275.1:n.*142_*145dup
NM_001173454.1:c.*142_*145dup	NP_001166925.1:n.*142_*145dup
NM_001173455.1:c.*142_*145dup	NP_001166926.1:n.*142_*145dup
NM_001173456.1:c.*142_*145dup	NP_001166927.1:n.*142_*145dup
XM_011545531.1:c.*142_*145dup	XP_011543833.1:n.*142_*145dup
XM_011545532.1:c.*142_*145dup	XP_011543834.1:n.*142_*145dup
XM_017029574.2:c.*142_*145dup	XP_016885063.1:n.*142_*145dup
NM_000284.4:c.*142_*145dup MANE Select	NP_000275.1:n.*142_*145dup
NM_001173454.2:c.*142_*145dup	NP_001166925.1:n.*142_*145dup
NM_001173455.2:c.*142_*145dup	NP_001166926.1:n.*142_*145dup
NM_001173456.2:c.*142_*145dup	NP_001166927.1:n.*142_*145dup