Canonical Allele Identifier: CA913191132

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 632937
• ClinVar RCV Id: RCV000780582
• dbSNP Id: rs1569193991

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359467_19359537dup , CM000685.2:g.19359467_19359537dup	GRCh38
NC_000023.10:g.19377585_19377655dup , CM000685.1:g.19377585_19377655dup	GRCh37
NC_000023.9:g.19287506_19287576dup	NCBI36
NG_016781.1:g.20575_20645dup
NG_021184.1:g.160725_160795dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1030-22_1078dup
ENST00000379805.4:c.*701-22_*749dup
ENST00000417819.6:c.1093-22_1141dup
ENST00000423505.6:c.1123-22_1171dup
ENST00000481733.2:n.804-22_852dup
ENST00000696704.1:c.*341-22_*389dup
ENST00000696705.1:c.*464-22_*512dup
ENST00000422285.7:c.1009-22_1057dup
ENST00000379804.1:c.166-22_214dup
ENST00000379806.9:c.1123-22_1171dup
ENST00000422285.6:c.1009-22_1057dup
ENST00000478795.1:n.448-22_496dup
ENST00000540249.5:c.916-22_964dup
ENST00000545074.5:c.1030-22_1078dup
NM_000284.3:c.1009-22_1057dup
NM_001173454.1:c.1123-22_1171dup
NM_001173455.1:c.1030-22_1078dup
NM_001173456.1:c.916-22_964dup
XM_011545531.1:c.1144-22_1192dup
XM_011545532.1:c.1051-22_1099dup
XM_017029574.2:c.1030-22_1078dup
NM_000284.4:c.1009-22_1057dup
NM_001173454.2:c.1123-22_1171dup
NM_001173455.2:c.1030-22_1078dup
NM_001173456.2:c.916-22_964dup