Canonical Allele Identifier: CA2418225203
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2974416
ClinVar RCV Id: RCV003836054
dbSNP Id: rs2063231335

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19358898_19358901dup , CM000685.2:g.19358898_19358901dup GRCh38
NC_000023.10:g.19377016_19377019dup , CM000685.1:g.19377016_19377019dup GRCh37
NC_000023.9:g.19286937_19286940dup NCBI36
NG_016781.1:g.20006_20009dup
NG_021184.1:g.161362_161365dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.921-18_921-15dup ENSP00000348062.6:n.921-18_921-15dup
ENST00000379805.4:c.*592-18_*592-15dup ENSP00000369133.3:n.*592-18_*592-15dup
ENST00000417819.6:c.984-18_984-15dup ENSP00000404616.2:n.984-18_984-15dup
ENST00000423505.6:c.1014-18_1014-15dup ENSP00000406473.2:n.1014-18_1014-15dup
ENST00000481733.2:n.695-18_695-15dup
ENST00000696704.1:c.*232-18_*232-15dup ENSP00000512823.1:n.*232-18_*232-15dup
ENST00000696705.1:c.*355-18_*355-15dup ENSP00000512824.1:n.*355-18_*355-15dup
ENST00000422285.7:c.900-18_900-15dup MANE Select ENSP00000394382.2:n.900-18_900-15dup
ENST00000379804.1:c.57-18_57-15dup ENSP00000369132.1:n.57-18_57-15dup
ENST00000379806.9:c.1014-18_1014-15dup ENSP00000369134.5:n.1014-18_1014-15dup
ENST00000422285.6:c.900-18_900-15dup ENSP00000394382.2:n.900-18_900-15dup
ENST00000478795.1:n.339-18_339-15dup
ENST00000481733.1:n.328-18_328-15dup
ENST00000540249.5:c.807-18_807-15dup ENSP00000440761.1:n.807-18_807-15dup
ENST00000545074.5:c.921-18_921-15dup ENSP00000438550.1:n.921-18_921-15dup
NM_000284.3:c.900-18_900-15dup NP_000275.1:n.900-18_900-15dup
NM_001173454.1:c.1014-18_1014-15dup NP_001166925.1:n.1014-18_1014-15dup
NM_001173455.1:c.921-18_921-15dup NP_001166926.1:n.921-18_921-15dup
NM_001173456.1:c.807-18_807-15dup NP_001166927.1:n.807-18_807-15dup
XM_011545531.1:c.1035-18_1035-15dup XP_011543833.1:n.1035-18_1035-15dup
XM_011545532.1:c.942-18_942-15dup XP_011543834.1:n.942-18_942-15dup
XM_017029574.2:c.921-18_921-15dup XP_016885063.1:n.921-18_921-15dup
NM_000284.4:c.900-18_900-15dup MANE Select NP_000275.1:n.900-18_900-15dup
NM_001173454.2:c.1014-18_1014-15dup NP_001166925.1:n.1014-18_1014-15dup
NM_001173455.2:c.921-18_921-15dup NP_001166926.1:n.921-18_921-15dup
NM_001173456.2:c.807-18_807-15dup NP_001166927.1:n.807-18_807-15dup