Canonical Allele Identifier: CA1139667329

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 931363
• ClinVar RCV Id: RCV001197847
• dbSNP Id: rs2063233544

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359014_19359044dup , CM000685.2:g.19359014_19359044dup	GRCh38
NC_000023.10:g.19377132_19377162dup , CM000685.1:g.19377132_19377162dup	GRCh37
NC_000023.9:g.19287053_19287083dup	NCBI36
NG_016781.1:g.20122_20152dup
NG_021184.1:g.161221_161251dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1019_1029+20dup
ENST00000379805.4:c.*690_*700+20dup
ENST00000417819.6:c.1082_1092+20dup
ENST00000423505.6:c.1112_1122+20dup
ENST00000481733.2:n.793_803+20dup
ENST00000696704.1:c.*330_*340+20dup
ENST00000696705.1:c.*453_*463+20dup
ENST00000422285.7:c.998_1008+20dup
ENST00000379804.1:c.155_165+20dup
ENST00000379806.9:c.1112_1122+20dup
ENST00000422285.6:c.998_1008+20dup
ENST00000478795.1:n.437_447+20dup
ENST00000540249.5:c.905_915+20dup
ENST00000545074.5:c.1019_1029+20dup
NM_000284.3:c.998_1008+20dup
NM_001173454.1:c.1112_1122+20dup
NM_001173455.1:c.1019_1029+20dup
NM_001173456.1:c.905_915+20dup
XM_011545531.1:c.1133_1143+20dup
XM_011545532.1:c.1040_1050+20dup
XM_017029574.2:c.1019_1029+20dup
NM_000284.4:c.998_1008+20dup
NM_001173454.2:c.1112_1122+20dup
NM_001173455.2:c.1019_1029+20dup
NM_001173456.2:c.905_915+20dup