Canonical Allele Identifier: CA1131434219

Gene: PDHA1

Linked Data

• gnomAD v3: X-19358974-C-CTCAAGGACAGGATGGTGAACAGCAATCTTGCCAGTGTGGAAGAACTAAAGGTACAGTCACTTGTTCATGGTGGTTTGAAGGT
• gnomAD v4: X-19358974-C-CTCAAGGACAGGATGGTGAACAGCAATCTTGCCAGTGTGGAAGAACTAAAGGTACAGTCACTTGTTCATGGTGGTTTGAAGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358976_19359057dup , CM000685.2:g.19358976_19359057dup	GRCh38
NC_000023.10:g.19377094_19377175dup , CM000685.1:g.19377094_19377175dup	GRCh37
NC_000023.9:g.19287015_19287096dup	NCBI36
NG_016781.1:g.20084_20165dup
NG_021184.1:g.161206_161287dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.981_1029+33dup
ENST00000379805.4:c.*652_*700+33dup
ENST00000417819.6:c.1044_1092+33dup
ENST00000423505.6:c.1074_1122+33dup
ENST00000481733.2:n.755_803+33dup
ENST00000696704.1:c.*292_*340+33dup
ENST00000696705.1:c.*415_*463+33dup
ENST00000422285.7:c.960_1008+33dup
ENST00000379804.1:c.117_165+33dup
ENST00000379806.9:c.1074_1122+33dup
ENST00000422285.6:c.960_1008+33dup
ENST00000478795.1:n.399_447+33dup
ENST00000540249.5:c.867_915+33dup
ENST00000545074.5:c.981_1029+33dup
NM_000284.3:c.960_1008+33dup
NM_001173454.1:c.1074_1122+33dup
NM_001173455.1:c.981_1029+33dup
NM_001173456.1:c.867_915+33dup
XM_011545531.1:c.1095_1143+33dup
XM_011545532.1:c.1002_1050+33dup
XM_017029574.2:c.981_1029+33dup
NM_000284.4:c.960_1008+33dup
NM_001173454.2:c.1074_1122+33dup
NM_001173455.2:c.981_1029+33dup
NM_001173456.2:c.867_915+33dup