Canonical Allele Identifier: CA2573055207

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 1314330
• ClinVar RCV Id: RCV001771561
• dbSNP Id: rs2147187364

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358997_19359030dup , CM000685.2:g.19358997_19359030dup	GRCh38
NC_000023.10:g.19377115_19377148dup , CM000685.1:g.19377115_19377148dup	GRCh37
NC_000023.9:g.19287036_19287069dup	NCBI36
NG_016781.1:g.20105_20138dup
NG_021184.1:g.161236_161269dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1002_1029+6dup
ENST00000379805.4:c.*673_*700+6dup
ENST00000417819.6:c.1065_1092+6dup
ENST00000423505.6:c.1095_1122+6dup
ENST00000481733.2:n.776_803+6dup
ENST00000696704.1:c.*313_*340+6dup
ENST00000696705.1:c.*436_*463+6dup
ENST00000422285.7:c.981_1008+6dup
ENST00000379804.1:c.138_165+6dup
ENST00000379806.9:c.1095_1122+6dup
ENST00000422285.6:c.981_1008+6dup
ENST00000478795.1:n.420_447+6dup
ENST00000540249.5:c.888_915+6dup
ENST00000545074.5:c.1002_1029+6dup
NM_000284.3:c.981_1008+6dup
NM_001173454.1:c.1095_1122+6dup
NM_001173455.1:c.1002_1029+6dup
NM_001173456.1:c.888_915+6dup
XM_011545531.1:c.1116_1143+6dup
XM_011545532.1:c.1023_1050+6dup
XM_017029574.2:c.1002_1029+6dup
NM_000284.4:c.981_1008+6dup
NM_001173454.2:c.1095_1122+6dup
NM_001173455.2:c.1002_1029+6dup
NM_001173456.2:c.888_915+6dup