Canonical Allele Identifier: CA658794193

Gene: PDHA1

Linked Data

• PubMed: PMID:23033978

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19351316_19351317insAGA , CM000685.2:g.19351316_19351317insAGA	GRCh38
NC_000023.10:g.19369434_19369435insAGA , CM000685.1:g.19369434_19369435insAGA	GRCh37
NC_000023.9:g.19279355_19279356insAGA	NCBI36
NG_016781.1:g.12424_12425insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.348_349insAGA	ENSP00000348062.6:p.Asn116_Pro117insArg
ENST00000379805.4:c.327_328insAGA	ENSP00000369133.3:p.Asn109_Pro110insArg
ENST00000417819.6:c.411_412insAGA	ENSP00000404616.2:p.Asn137_Pro138insArg
ENST00000423505.6:c.441_442insAGA	ENSP00000406473.2:p.Asn147_Pro148insArg
ENST00000696704.1:c.327_328insAGA	ENSP00000512823.1:p.Asn109_Pro110insArg
ENST00000696705.1:c.327_328insAGA	ENSP00000512824.1:p.Asn109_Pro110insArg
ENST00000422285.7:c.327_328insAGA MANE Select	ENSP00000394382.2:p.Asn109_Pro110insArg
ENST00000355808.9:c.348_349insAGA	ENSP00000348062.5:p.Asn116_Pro117insArg
ENST00000379805.3:c.327_328insAGA	ENSP00000369133.3:p.Asn109_Pro110insArg
ENST00000379806.9:c.441_442insAGA	ENSP00000369134.5:p.Asn147_Pro148insArg
ENST00000422285.6:c.327_328insAGA	ENSP00000394382.2:p.Asn109_Pro110insArg
ENST00000423505.5:c.441_442insAGA	ENSP00000406473.1:p.Asn147_Pro148insArg
ENST00000492364.1:n.429_430insAGA
ENST00000540249.5:c.327_328insAGA	ENSP00000440761.1:p.Asn109_Pro110insArg
ENST00000545074.5:c.348_349insAGA	ENSP00000438550.1:p.Asn116_Pro117insArg
NM_000284.3:c.327_328insAGA	NP_000275.1:p.Asn109_Pro110insArg
NM_001173454.1:c.441_442insAGA	NP_001166925.1:p.Asn147_Pro148insArg
NM_001173455.1:c.348_349insAGA	NP_001166926.1:p.Asn116_Pro117insArg
NM_001173456.1:c.327_328insAGA	NP_001166927.1:p.Asn109_Pro110insArg
XM_011545531.1:c.462_463insAGA	XP_011543833.1:p.Asn154_Pro155insArg
XM_011545532.1:c.462_463insAGA	XP_011543834.1:p.Asn154_Pro155insArg
XM_017029574.2:c.441_442insAGA	XP_016885063.1:p.Asn147_Pro148insArg
NM_000284.4:c.327_328insAGA MANE Select	NP_000275.1:p.Asn109_Pro110insArg
NM_001173454.2:c.441_442insAGA	NP_001166925.1:p.Asn147_Pro148insArg
NM_001173455.2:c.348_349insAGA	NP_001166926.1:p.Asn116_Pro117insArg
NM_001173456.2:c.327_328insAGA	NP_001166927.1:p.Asn109_Pro110insArg