Canonical Allele Identifier: CA2418225797

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063256288

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359861_19359865dup , CM000685.2:g.19359861_19359865dup	GRCh38
NC_000023.10:g.19377979_19377983dup , CM000685.1:g.19377979_19377983dup	GRCh37
NC_000023.9:g.19287900_19287904dup	NCBI36
NG_016781.1:g.20969_20973dup
NG_021184.1:g.160399_160403dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*208_*212dup	ENSP00000348062.6:n.*208_*212dup
ENST00000423505.6:c.*208_*212dup	ENSP00000406473.2:n.*208_*212dup
ENST00000696704.1:c.*713_*717dup	ENSP00000512823.1:n.*713_*717dup
ENST00000696705.1:c.*836_*840dup	ENSP00000512824.1:n.*836_*840dup
ENST00000422285.7:c.*208_*212dup MANE Select	ENSP00000394382.2:n.*208_*212dup
ENST00000379806.9:c.*208_*212dup	ENSP00000369134.5:n.*208_*212dup
ENST00000422285.6:c.*208_*212dup	ENSP00000394382.2:n.*208_*212dup
ENST00000540249.5:c.*208_*212dup	ENSP00000440761.1:n.*208_*212dup
ENST00000545074.5:c.*208_*212dup	ENSP00000438550.1:n.*208_*212dup
NM_000284.3:c.*208_*212dup	NP_000275.1:n.*208_*212dup
NM_001173454.1:c.*208_*212dup	NP_001166925.1:n.*208_*212dup
NM_001173455.1:c.*208_*212dup	NP_001166926.1:n.*208_*212dup
NM_001173456.1:c.*208_*212dup	NP_001166927.1:n.*208_*212dup
XM_011545531.1:c.*208_*212dup	XP_011543833.1:n.*208_*212dup
XM_011545532.1:c.*208_*212dup	XP_011543834.1:n.*208_*212dup
NM_000284.4:c.*208_*212dup MANE Select	NP_000275.1:n.*208_*212dup
NM_001173454.2:c.*208_*212dup	NP_001166925.1:n.*208_*212dup
NM_001173455.2:c.*208_*212dup	NP_001166926.1:n.*208_*212dup
NM_001173456.2:c.*208_*212dup	NP_001166927.1:n.*208_*212dup