Canonical Allele Identifier: CA10363174

Gene: PDHA1

Linked Data

• dbSNP Id: rs746059488
• ExAC: X:19377137 C / CTAAAGGTACAGTCACTTG
• gnomAD v2: X-19377137-C-CTAAAGGTACAGTCACTTG
• gnomAD v4: X-19359019-C-CTAAAGGTACAGTCACTTG
• MyVariant Identifiers: chrX:g.19377137_19377138insTAAAGGTACAGTCACTTG (hg19) ; chrX:g.19359019_19359020insTAAAGGTACAGTCACTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359021_19359038dup , CM000685.2:g.19359021_19359038dup	GRCh38
NC_000023.10:g.19377139_19377156dup , CM000685.1:g.19377139_19377156dup	GRCh37
NC_000023.9:g.19287060_19287077dup	NCBI36
NG_016781.1:g.20129_20146dup
NG_021184.1:g.161225_161242dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1026_1029+14dup
ENST00000379805.4:c.*697_*700+14dup
ENST00000417819.6:c.1089_1092+14dup
ENST00000423505.6:c.1119_1122+14dup
ENST00000481733.2:n.800_803+14dup
ENST00000696704.1:c.*337_*340+14dup
ENST00000696705.1:c.*460_*463+14dup
ENST00000422285.7:c.1005_1008+14dup
ENST00000379804.1:c.162_165+14dup
ENST00000379806.9:c.1119_1122+14dup
ENST00000422285.6:c.1005_1008+14dup
ENST00000478795.1:n.444_447+14dup
ENST00000540249.5:c.912_915+14dup
ENST00000545074.5:c.1026_1029+14dup
NM_000284.3:c.1005_1008+14dup
NM_001173454.1:c.1119_1122+14dup
NM_001173455.1:c.1026_1029+14dup
NM_001173456.1:c.912_915+14dup
XM_011545531.1:c.1140_1143+14dup
XM_011545532.1:c.1047_1050+14dup
XM_017029574.2:c.1026_1029+14dup
NM_000284.4:c.1005_1008+14dup
NM_001173454.2:c.1119_1122+14dup
NM_001173455.2:c.1026_1029+14dup
NM_001173456.2:c.912_915+14dup