Canonical Allele Identifier: CA2418225856

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063257978

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359948_19359950dup , CM000685.2:g.19359948_19359950dup	GRCh38
NC_000023.10:g.19378066_19378068dup , CM000685.1:g.19378066_19378068dup	GRCh37
NC_000023.9:g.19287987_19287989dup	NCBI36
NG_016781.1:g.21056_21058dup
NG_021184.1:g.160314_160316dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*295_*297dup	ENSP00000348062.6:n.*295_*297dup
ENST00000423505.6:c.*295_*297dup	ENSP00000406473.2:n.*295_*297dup
ENST00000696704.1:c.*800_*802dup	ENSP00000512823.1:n.*800_*802dup
ENST00000696705.1:c.*923_*925dup	ENSP00000512824.1:n.*923_*925dup
ENST00000422285.7:c.*295_*297dup MANE Select	ENSP00000394382.2:n.*295_*297dup
ENST00000379806.9:c.*295_*297dup	ENSP00000369134.5:n.*295_*297dup
ENST00000422285.6:c.*295_*297dup	ENSP00000394382.2:n.*295_*297dup
ENST00000540249.5:c.*295_*297dup	ENSP00000440761.1:n.*295_*297dup
ENST00000545074.5:c.*295_*297dup	ENSP00000438550.1:n.*295_*297dup
NM_000284.3:c.*295_*297dup	NP_000275.1:n.*295_*297dup
NM_001173454.1:c.*295_*297dup	NP_001166925.1:n.*295_*297dup
NM_001173455.1:c.*295_*297dup	NP_001166926.1:n.*295_*297dup
NM_001173456.1:c.*295_*297dup	NP_001166927.1:n.*295_*297dup
XM_011545531.1:c.*295_*297dup	XP_011543833.1:n.*295_*297dup
XM_011545532.1:c.*295_*297dup	XP_011543834.1:n.*295_*297dup
NM_000284.4:c.*295_*297dup MANE Select	NP_000275.1:n.*295_*297dup
NM_001173454.2:c.*295_*297dup	NP_001166925.1:n.*295_*297dup
NM_001173455.2:c.*295_*297dup	NP_001166926.1:n.*295_*297dup
NM_001173456.2:c.*295_*297dup	NP_001166927.1:n.*295_*297dup