Canonical Allele Identifier: CA10363262

Gene: PDHA1

Linked Data

• dbSNP Id: rs745608853
• ExAC: X:19377897 A / ATCTATTTTAT
• MyVariant Identifiers: chrX:g.19377897_19377898insTCTATTTTAT (hg19) ; chrX:g.19359779_19359780insTCTATTTTAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359779_19359780insTCTATTTTAT , CM000685.2:g.19359779_19359780insTCTATTTTAT	GRCh38
NC_000023.10:g.19377897_19377898insTCTATTTTAT , CM000685.1:g.19377897_19377898insTCTATTTTAT	GRCh37
NC_000023.9:g.19287818_19287819insTCTATTTTAT	NCBI36
NG_016781.1:g.20887_20888insTCTATTTTAT
NG_021184.1:g.160482_160483insATAAAATAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*126_*127insTCTATTTTAT	ENSP00000348062.6:n.*126_*127insTCTATTTTAT
ENST00000379805.4:c.*991_*992insTCTATTTTAT	ENSP00000369133.3:n.*991_*992insTCTATTTTAT
ENST00000417819.6:c.*126_*127insTCTATTTTAT	ENSP00000404616.2:n.*126_*127insTCTATTTTAT
ENST00000423505.6:c.*126_*127insTCTATTTTAT	ENSP00000406473.2:n.*126_*127insTCTATTTTAT
ENST00000481733.2:n.1094_1095insTCTATTTTAT
ENST00000696704.1:c.*631_*632insTCTATTTTAT	ENSP00000512823.1:n.*631_*632insTCTATTTTAT
ENST00000696705.1:c.*754_*755insTCTATTTTAT	ENSP00000512824.1:n.*754_*755insTCTATTTTAT
ENST00000422285.7:c.*126_*127insTCTATTTTAT MANE Select	ENSP00000394382.2:n.*126_*127insTCTATTTTAT
ENST00000379804.1:c.*126_*127insTCTATTTTAT	ENSP00000369132.1:n.*126_*127insTCTATTTTAT
ENST00000379806.9:c.*126_*127insTCTATTTTAT	ENSP00000369134.5:n.*126_*127insTCTATTTTAT
ENST00000422285.6:c.*126_*127insTCTATTTTAT	ENSP00000394382.2:n.*126_*127insTCTATTTTAT
ENST00000478795.1:n.738_739insTCTATTTTAT
ENST00000540249.5:c.*126_*127insTCTATTTTAT	ENSP00000440761.1:n.*126_*127insTCTATTTTAT
ENST00000545074.5:c.*126_*127insTCTATTTTAT	ENSP00000438550.1:n.*126_*127insTCTATTTTAT
NM_000284.3:c.*126_*127insTCTATTTTAT	NP_000275.1:n.*126_*127insTCTATTTTAT
NM_001173454.1:c.*126_*127insTCTATTTTAT	NP_001166925.1:n.*126_*127insTCTATTTTAT
NM_001173455.1:c.*126_*127insTCTATTTTAT	NP_001166926.1:n.*126_*127insTCTATTTTAT
NM_001173456.1:c.*126_*127insTCTATTTTAT	NP_001166927.1:n.*126_*127insTCTATTTTAT
XM_011545531.1:c.*126_*127insTCTATTTTAT	XP_011543833.1:n.*126_*127insTCTATTTTAT
XM_011545532.1:c.*126_*127insTCTATTTTAT	XP_011543834.1:n.*126_*127insTCTATTTTAT
XM_017029574.2:c.*126_*127insTCTATTTTAT	XP_016885063.1:n.*126_*127insTCTATTTTAT
NM_000284.4:c.*126_*127insTCTATTTTAT MANE Select	NP_000275.1:n.*126_*127insTCTATTTTAT
NM_001173454.2:c.*126_*127insTCTATTTTAT	NP_001166925.1:n.*126_*127insTCTATTTTAT
NM_001173455.2:c.*126_*127insTCTATTTTAT	NP_001166926.1:n.*126_*127insTCTATTTTAT
NM_001173456.2:c.*126_*127insTCTATTTTAT	NP_001166927.1:n.*126_*127insTCTATTTTAT