Canonical Allele Identifier: CA658794195
Gene: PDHA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19357675_19357676insTTAC , CM000685.2:g.19357675_19357676insTTAC GRCh38
NC_000023.10:g.19375793_19375794insTTAC , CM000685.1:g.19375793_19375794insTTAC GRCh37
NC_000023.9:g.19285714_19285715insTTAC NCBI36
NG_016781.1:g.18783_18784insTTAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.876_877insTTAC ENSP00000348062.6:p.Thr293LeufsTer12
ENST00000379805.4:c.*547_*548insTTAC ENSP00000369133.3:n.*547_*548insTTAC
ENST00000417819.6:c.939_940insTTAC ENSP00000404616.2:p.Thr314LeufsTer12
ENST00000423505.6:c.969_970insTTAC ENSP00000406473.2:p.Thr324LeufsTer12
ENST00000481733.2:n.650_651insTTAC
ENST00000696704.1:c.*187_*188insTTAC ENSP00000512823.1:n.*187_*188insTTAC
ENST00000696705.1:c.*310_*311insTTAC ENSP00000512824.1:n.*310_*311insTTAC
ENST00000422285.7:c.855_856insTTAC MANE Select ENSP00000394382.2:p.Thr286LeufsTer12
ENST00000379804.1:c.12_13insTTAC ENSP00000369132.1:p.Thr5LeufsTer12
ENST00000379806.9:c.969_970insTTAC ENSP00000369134.5:p.Thr324LeufsTer12
ENST00000422285.6:c.855_856insTTAC ENSP00000394382.2:p.Thr286LeufsTer12
ENST00000478795.1:n.294_295insTTAC
ENST00000481733.1:n.283_284insTTAC
ENST00000540249.5:c.762_763insTTAC ENSP00000440761.1:p.Thr255LeufsTer12
ENST00000545074.5:c.876_877insTTAC ENSP00000438550.1:p.Thr293LeufsTer12
NM_000284.3:c.855_856insTTAC NP_000275.1:p.Thr286LeufsTer12
NM_001173454.1:c.969_970insTTAC NP_001166925.1:p.Thr324LeufsTer12
NM_001173455.1:c.876_877insTTAC NP_001166926.1:p.Thr293LeufsTer12
NM_001173456.1:c.762_763insTTAC NP_001166927.1:p.Thr255LeufsTer12
XM_011545531.1:c.990_991insTTAC XP_011543833.1:p.Thr331LeufsTer12
XM_011545532.1:c.897_898insTTAC XP_011543834.1:p.Thr300LeufsTer12
XM_017029574.2:c.876_877insTTAC XP_016885063.1:p.Thr293LeufsTer12
NM_000284.4:c.855_856insTTAC MANE Select NP_000275.1:p.Thr286LeufsTer12
NM_001173454.2:c.969_970insTTAC NP_001166925.1:p.Thr324LeufsTer12
NM_001173455.2:c.876_877insTTAC NP_001166926.1:p.Thr293LeufsTer12
NM_001173456.2:c.762_763insTTAC NP_001166927.1:p.Thr255LeufsTer12