Canonical Allele Identifier: CA2693251290
Gene: PDHA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19359419_19359434dup , CM000685.2:g.19359419_19359434dup GRCh38
NC_000023.10:g.19377537_19377552dup , CM000685.1:g.19377537_19377552dup GRCh37
NC_000023.9:g.19287458_19287473dup NCBI36
NG_016781.1:g.20527_20542dup
NG_021184.1:g.160828_160843dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.1030-70_1030-55dup ENSP00000348062.6:n.1030-70_1030-55dup
ENST00000379805.4:c.*701-70_*701-55dup ENSP00000369133.3:n.*701-70_*701-55dup
ENST00000417819.6:c.1093-70_1093-55dup ENSP00000404616.2:n.1093-70_1093-55dup
ENST00000423505.6:c.1123-70_1123-55dup ENSP00000406473.2:n.1123-70_1123-55dup
ENST00000481733.2:n.804-70_804-55dup
ENST00000696704.1:c.*341-70_*341-55dup ENSP00000512823.1:n.*341-70_*341-55dup
ENST00000696705.1:c.*464-70_*464-55dup ENSP00000512824.1:n.*464-70_*464-55dup
ENST00000422285.7:c.1009-70_1009-55dup MANE Select ENSP00000394382.2:n.1009-70_1009-55dup
ENST00000379804.1:c.166-70_166-55dup ENSP00000369132.1:n.166-70_166-55dup
ENST00000379806.9:c.1123-70_1123-55dup ENSP00000369134.5:n.1123-70_1123-55dup
ENST00000422285.6:c.1009-70_1009-55dup ENSP00000394382.2:n.1009-70_1009-55dup
ENST00000478795.1:n.448-70_448-55dup
ENST00000540249.5:c.916-70_916-55dup ENSP00000440761.1:n.916-70_916-55dup
ENST00000545074.5:c.1030-70_1030-55dup ENSP00000438550.1:n.1030-70_1030-55dup
NM_000284.3:c.1009-70_1009-55dup NP_000275.1:n.1009-70_1009-55dup
NM_001173454.1:c.1123-70_1123-55dup NP_001166925.1:n.1123-70_1123-55dup
NM_001173455.1:c.1030-70_1030-55dup NP_001166926.1:n.1030-70_1030-55dup
NM_001173456.1:c.916-70_916-55dup NP_001166927.1:n.916-70_916-55dup
XM_011545531.1:c.1144-70_1144-55dup XP_011543833.1:n.1144-70_1144-55dup
XM_011545532.1:c.1051-70_1051-55dup XP_011543834.1:n.1051-70_1051-55dup
XM_017029574.2:c.1030-70_1030-55dup XP_016885063.1:n.1030-70_1030-55dup
NM_000284.4:c.1009-70_1009-55dup MANE Select NP_000275.1:n.1009-70_1009-55dup
NM_001173454.2:c.1123-70_1123-55dup NP_001166925.1:n.1123-70_1123-55dup
NM_001173455.2:c.1030-70_1030-55dup NP_001166926.1:n.1030-70_1030-55dup
NM_001173456.2:c.916-70_916-55dup NP_001166927.1:n.916-70_916-55dup