Canonical Allele Identifier: CA412393316

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19353145A>G , CM000685.2:g.19353145A>G	GRCh38
NC_000023.10:g.19371263A>G , CM000685.1:g.19371263A>G	GRCh37
NC_000023.9:g.19281184A>G	NCBI36
NG_016781.1:g.14253A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000284.4:c.482A>G MANE Select	NP_000275.1:p.Tyr161Cys
ENST00000422285.7:c.482A>G MANE Select	ENSP00000394382.2:p.Tyr161Cys
NM_000284.3:c.482A>G	NP_000275.1:p.Tyr161Cys
NM_001173454.1:c.596A>G	NP_001166925.1:p.Tyr199Cys
NM_001173454.2:c.596A>G	NP_001166925.1:p.Tyr199Cys
NM_001173455.1:c.503A>G	NP_001166926.1:p.Tyr168Cys
NM_001173455.2:c.503A>G	NP_001166926.1:p.Tyr168Cys
NM_001173456.1:c.482A>G	NP_001166927.1:p.Tyr161Cys
NM_001173456.2:c.482A>G	NP_001166927.1:p.Tyr161Cys
ENST00000355808.10:c.503A>G	ENSP00000348062.6:p.Tyr168Cys
ENST00000355808.9:c.503A>G	ENSP00000348062.5:p.Tyr168Cys
ENST00000379805.3:c.482A>G	ENSP00000369133.3:p.Tyr161Cys
ENST00000379805.4:c.482A>G	ENSP00000369133.3:p.Tyr161Cys
ENST00000379806.9:c.596A>G	ENSP00000369134.5:p.Tyr199Cys
ENST00000417819.6:c.566A>G	ENSP00000404616.2:p.Tyr189Cys
ENST00000422285.6:c.482A>G	ENSP00000394382.2:p.Tyr161Cys
ENST00000423505.5:c.596A>G	ENSP00000406473.1:p.Tyr199Cys
ENST00000423505.6:c.596A>G	ENSP00000406473.2:p.Tyr199Cys
ENST00000479146.1:n.317A>G
ENST00000540249.5:c.482A>G	ENSP00000440761.1:p.Tyr161Cys
ENST00000545074.5:c.503A>G	ENSP00000438550.1:p.Tyr168Cys
ENST00000696704.1:c.418+1738A>G	ENSP00000512823.1:n.418+1738A>G
ENST00000696705.1:c.419-1346A>G	ENSP00000512824.1:n.419-1346A>G
XM_011545531.1:c.617A>G	XP_011543833.1:p.Tyr206Cys
XM_011545532.1:c.617A>G	XP_011543834.1:p.Tyr206Cys
XM_017029574.2:c.596A>G	XP_016885063.1:p.Tyr199Cys