Canonical Allele Identifier: CA2536605440
Gene: PDHA1 HGNC NCBI

Linked Data

gnomAD v4: X-19359937-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19359937T>A , CM000685.2:g.19359937T>A GRCh38
NC_000023.10:g.19378055T>A , CM000685.1:g.19378055T>A GRCh37
NC_000023.9:g.19287976T>A NCBI36
NG_016781.1:g.21045T>A
NG_021184.1:g.160325A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.*284T>A ENSP00000348062.6:n.*284T>A
ENST00000423505.6:c.*284T>A ENSP00000406473.2:n.*284T>A
ENST00000696704.1:c.*789T>A ENSP00000512823.1:n.*789T>A
ENST00000696705.1:c.*912T>A ENSP00000512824.1:n.*912T>A
ENST00000422285.7:c.*284T>A MANE Select ENSP00000394382.2:n.*284T>A
ENST00000379806.9:c.*284T>A ENSP00000369134.5:n.*284T>A
ENST00000422285.6:c.*284T>A ENSP00000394382.2:n.*284T>A
ENST00000540249.5:c.*284T>A ENSP00000440761.1:n.*284T>A
ENST00000545074.5:c.*284T>A ENSP00000438550.1:n.*284T>A
NM_000284.3:c.*284T>A NP_000275.1:n.*284T>A
NM_001173454.1:c.*284T>A NP_001166925.1:n.*284T>A
NM_001173455.1:c.*284T>A NP_001166926.1:n.*284T>A
NM_001173456.1:c.*284T>A NP_001166927.1:n.*284T>A
XM_011545531.1:c.*284T>A XP_011543833.1:n.*284T>A
XM_011545532.1:c.*284T>A XP_011543834.1:n.*284T>A
NM_000284.4:c.*284T>A MANE Select NP_000275.1:n.*284T>A
NM_001173454.2:c.*284T>A NP_001166925.1:n.*284T>A
NM_001173455.2:c.*284T>A NP_001166926.1:n.*284T>A
NM_001173456.2:c.*284T>A NP_001166927.1:n.*284T>A