Canonical Allele Identifier: CA10363260

Gene: PDHA1

Linked Data

• dbSNP Id: rs745608853
• ExAC: X:19377897 A / ATC
• gnomAD v2: X-19377897-A-ATC
• MyVariant Identifiers: chrX:g.19377897_19377898insTC (hg19) ; chrX:g.19359779_19359780insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359779_19359780insTC , CM000685.2:g.19359779_19359780insTC	GRCh38
NC_000023.10:g.19377897_19377898insTC , CM000685.1:g.19377897_19377898insTC	GRCh37
NC_000023.9:g.19287818_19287819insTC	NCBI36
NG_016781.1:g.20887_20888insTC
NG_021184.1:g.160482_160483insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*126_*127insTC	ENSP00000348062.6:n.*126_*127insTC
ENST00000379805.4:c.*991_*992insTC	ENSP00000369133.3:n.*991_*992insTC
ENST00000417819.6:c.*126_*127insTC	ENSP00000404616.2:n.*126_*127insTC
ENST00000423505.6:c.*126_*127insTC	ENSP00000406473.2:n.*126_*127insTC
ENST00000481733.2:n.1094_1095insTC
ENST00000696704.1:c.*631_*632insTC	ENSP00000512823.1:n.*631_*632insTC
ENST00000696705.1:c.*754_*755insTC	ENSP00000512824.1:n.*754_*755insTC
ENST00000422285.7:c.*126_*127insTC MANE Select	ENSP00000394382.2:n.*126_*127insTC
ENST00000379804.1:c.*126_*127insTC	ENSP00000369132.1:n.*126_*127insTC
ENST00000379806.9:c.*126_*127insTC	ENSP00000369134.5:n.*126_*127insTC
ENST00000422285.6:c.*126_*127insTC	ENSP00000394382.2:n.*126_*127insTC
ENST00000478795.1:n.738_739insTC
ENST00000540249.5:c.*126_*127insTC	ENSP00000440761.1:n.*126_*127insTC
ENST00000545074.5:c.*126_*127insTC	ENSP00000438550.1:n.*126_*127insTC
NM_000284.3:c.*126_*127insTC	NP_000275.1:n.*126_*127insTC
NM_001173454.1:c.*126_*127insTC	NP_001166925.1:n.*126_*127insTC
NM_001173455.1:c.*126_*127insTC	NP_001166926.1:n.*126_*127insTC
NM_001173456.1:c.*126_*127insTC	NP_001166927.1:n.*126_*127insTC
XM_011545531.1:c.*126_*127insTC	XP_011543833.1:n.*126_*127insTC
XM_011545532.1:c.*126_*127insTC	XP_011543834.1:n.*126_*127insTC
XM_017029574.2:c.*126_*127insTC	XP_016885063.1:n.*126_*127insTC
NM_000284.4:c.*126_*127insTC MANE Select	NP_000275.1:n.*126_*127insTC
NM_001173454.2:c.*126_*127insTC	NP_001166925.1:n.*126_*127insTC
NM_001173455.2:c.*126_*127insTC	NP_001166926.1:n.*126_*127insTC
NM_001173456.2:c.*126_*127insTC	NP_001166927.1:n.*126_*127insTC