Canonical Allele Identifier: CA2418225776
Gene: PDHA1 HGNC NCBI

Linked Data

dbSNP Id: rs2063255647

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19359827_19359837dup , CM000685.2:g.19359827_19359837dup GRCh38
NC_000023.10:g.19377945_19377955dup , CM000685.1:g.19377945_19377955dup GRCh37
NC_000023.9:g.19287866_19287876dup NCBI36
NG_016781.1:g.20935_20945dup
NG_021184.1:g.160426_160436dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.*174_*184dup ENSP00000348062.6:n.*174_*184dup
ENST00000417819.6:c.*174_*184dup ENSP00000404616.2:n.*174_*184dup
ENST00000423505.6:c.*174_*184dup ENSP00000406473.2:n.*174_*184dup
ENST00000481733.2:n.1142_1152dup
ENST00000696704.1:c.*679_*689dup ENSP00000512823.1:n.*679_*689dup
ENST00000696705.1:c.*802_*812dup ENSP00000512824.1:n.*802_*812dup
ENST00000422285.7:c.*174_*184dup MANE Select ENSP00000394382.2:n.*174_*184dup
ENST00000379804.1:c.*174_*184dup ENSP00000369132.1:n.*174_*184dup
ENST00000379806.9:c.*174_*184dup ENSP00000369134.5:n.*174_*184dup
ENST00000422285.6:c.*174_*184dup ENSP00000394382.2:n.*174_*184dup
ENST00000540249.5:c.*174_*184dup ENSP00000440761.1:n.*174_*184dup
ENST00000545074.5:c.*174_*184dup ENSP00000438550.1:n.*174_*184dup
NM_000284.3:c.*174_*184dup NP_000275.1:n.*174_*184dup
NM_001173454.1:c.*174_*184dup NP_001166925.1:n.*174_*184dup
NM_001173455.1:c.*174_*184dup NP_001166926.1:n.*174_*184dup
NM_001173456.1:c.*174_*184dup NP_001166927.1:n.*174_*184dup
XM_011545531.1:c.*174_*184dup XP_011543833.1:n.*174_*184dup
XM_011545532.1:c.*174_*184dup XP_011543834.1:n.*174_*184dup
XM_017029574.2:c.*174_*184dup XP_016885063.1:n.*174_*184dup
NM_000284.4:c.*174_*184dup MANE Select NP_000275.1:n.*174_*184dup
NM_001173454.2:c.*174_*184dup NP_001166925.1:n.*174_*184dup
NM_001173455.2:c.*174_*184dup NP_001166926.1:n.*174_*184dup
NM_001173456.2:c.*174_*184dup NP_001166927.1:n.*174_*184dup