Canonical Allele Identifier: CA327030421
Community Standard Title: NM_000284.4(PDHA1):c.900-63A>C
Gene: PDHA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19358853A>C , CM000685.2:g.19358853A>C GRCh38
NC_000023.10:g.19376971A>C , CM000685.1:g.19376971A>C GRCh37
NC_000023.9:g.19286892A>C NCBI36
NG_016781.1:g.19961A>C
NG_021184.1:g.161409T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000284.4:c.900-63A>C MANE Select NP_000275.1:n.900-63A>C
ENST00000422285.7:c.900-63A>C MANE Select ENSP00000394382.2:n.900-63A>C
NM_000284.3:c.900-63A>C NP_000275.1:n.900-63A>C
NM_001173454.1:c.1014-63A>C NP_001166925.1:n.1014-63A>C
NM_001173454.2:c.1014-63A>C NP_001166925.1:n.1014-63A>C
NM_001173455.1:c.921-63A>C NP_001166926.1:n.921-63A>C
NM_001173455.2:c.921-63A>C NP_001166926.1:n.921-63A>C
NM_001173456.1:c.807-63A>C NP_001166927.1:n.807-63A>C
NM_001173456.2:c.807-63A>C NP_001166927.1:n.807-63A>C
ENST00000355808.10:c.921-63A>C ENSP00000348062.6:n.921-63A>C
ENST00000379804.1:c.57-63A>C ENSP00000369132.1:n.57-63A>C
ENST00000379805.4:c.*592-63A>C ENSP00000369133.3:n.*592-63A>C
ENST00000379806.9:c.1014-63A>C ENSP00000369134.5:n.1014-63A>C
ENST00000417819.6:c.984-63A>C ENSP00000404616.2:n.984-63A>C
ENST00000422285.6:c.900-63A>C ENSP00000394382.2:n.900-63A>C
ENST00000423505.6:c.1014-63A>C ENSP00000406473.2:n.1014-63A>C
ENST00000478795.1:n.339-63A>C
ENST00000481733.1:n.328-63A>C
ENST00000481733.2:n.695-63A>C
ENST00000540249.5:c.807-63A>C ENSP00000440761.1:n.807-63A>C
ENST00000545074.5:c.921-63A>C ENSP00000438550.1:n.921-63A>C
ENST00000696704.1:c.*232-63A>C ENSP00000512823.1:n.*232-63A>C
ENST00000696705.1:c.*355-63A>C ENSP00000512824.1:n.*355-63A>C
XM_011545531.1:c.1035-63A>C XP_011543833.1:n.1035-63A>C
XM_011545532.1:c.942-63A>C XP_011543834.1:n.942-63A>C
XM_017029574.2:c.921-63A>C XP_016885063.1:n.921-63A>C
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