Canonical Allele Identifier: CA121211
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10877
ClinVar RCV Id: RCV000011624
dbSNP Id: rs606231188

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19358913_19358933dup , CM000685.2:g.19358913_19358933dup GRCh38
NC_000023.10:g.19377031_19377051dup , CM000685.1:g.19377031_19377051dup GRCh37
NC_000023.9:g.19286952_19286972dup NCBI36
NG_016781.1:g.20021_20041dup
NG_021184.1:g.161330_161350dup

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.921-3_938dup
ENST00000379805.4:c.*592-3_*609dup
ENST00000417819.6:c.984-3_1001dup
ENST00000423505.6:c.1014-3_1031dup
ENST00000481733.2:n.695-3_712dup
ENST00000696704.1:c.*232-3_*249dup
ENST00000696705.1:c.*355-3_*372dup
ENST00000422285.7:c.900-3_917dup
ENST00000379804.1:c.57-3_74dup
ENST00000379806.9:c.1014-3_1031dup
ENST00000422285.6:c.900-3_917dup
ENST00000478795.1:n.339-3_356dup
ENST00000481733.1:n.328-3_345dup
ENST00000540249.5:c.807-3_824dup
ENST00000545074.5:c.921-3_938dup
NM_000284.3:c.900-3_917dup
NM_001173454.1:c.1014-3_1031dup
NM_001173455.1:c.921-3_938dup
NM_001173456.1:c.807-3_824dup
XM_011545531.1:c.1035-3_1052dup
XM_011545532.1:c.942-3_959dup
XM_017029574.2:c.921-3_938dup
NM_000284.4:c.900-3_917dup
NM_001173454.2:c.1014-3_1031dup
NM_001173455.2:c.921-3_938dup
NM_001173456.2:c.807-3_824dup