Canonical Allele Identifier: CA10363248
Gene: PDHA1 HGNC NCBI

Linked Data

dbSNP Id: rs606231192

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19359745_19359764dup , CM000685.2:g.19359745_19359764dup GRCh38
NC_000023.10:g.19377863_19377882dup , CM000685.1:g.19377863_19377882dup GRCh37
NC_000023.9:g.19287784_19287803dup NCBI36
NG_016781.1:g.20853_20872dup
NG_021184.1:g.160499_160518dup

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.*92_*111dup ENSP00000348062.6:n.*92_*111dup
ENST00000379805.4:c.*957_*976dup ENSP00000369133.3:n.*957_*976dup
ENST00000417819.6:c.*92_*111dup ENSP00000404616.2:n.*92_*111dup
ENST00000423505.6:c.*92_*111dup ENSP00000406473.2:n.*92_*111dup
ENST00000481733.2:n.1060_1079dup
ENST00000696704.1:c.*597_*616dup ENSP00000512823.1:n.*597_*616dup
ENST00000696705.1:c.*720_*739dup ENSP00000512824.1:n.*720_*739dup
ENST00000422285.7:c.*92_*111dup MANE Select ENSP00000394382.2:n.*92_*111dup
ENST00000379804.1:c.*92_*111dup ENSP00000369132.1:n.*92_*111dup
ENST00000379806.9:c.*92_*111dup ENSP00000369134.5:n.*92_*111dup
ENST00000422285.6:c.*92_*111dup ENSP00000394382.2:n.*92_*111dup
ENST00000478795.1:n.704_723dup
ENST00000540249.5:c.*92_*111dup ENSP00000440761.1:n.*92_*111dup
ENST00000545074.5:c.*92_*111dup ENSP00000438550.1:n.*92_*111dup
NM_000284.3:c.*92_*111dup NP_000275.1:n.*92_*111dup
NM_001173454.1:c.*92_*111dup NP_001166925.1:n.*92_*111dup
NM_001173455.1:c.*92_*111dup NP_001166926.1:n.*92_*111dup
NM_001173456.1:c.*92_*111dup NP_001166927.1:n.*92_*111dup
XM_011545531.1:c.*92_*111dup XP_011543833.1:n.*92_*111dup
XM_011545532.1:c.*92_*111dup XP_011543834.1:n.*92_*111dup
XM_017029574.2:c.*92_*111dup XP_016885063.1:n.*92_*111dup
NM_000284.4:c.*92_*111dup MANE Select NP_000275.1:n.*92_*111dup
NM_001173454.2:c.*92_*111dup NP_001166925.1:n.*92_*111dup
NM_001173455.2:c.*92_*111dup NP_001166926.1:n.*92_*111dup
NM_001173456.2:c.*92_*111dup NP_001166927.1:n.*92_*111dup