Canonical Allele Identifier: CA412393855

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19354498T>C , CM000685.2:g.19354498T>C	GRCh38
NC_000023.10:g.19372616T>C , CM000685.1:g.19372616T>C	GRCh37
NC_000023.9:g.19282537T>C	NCBI36
NG_016781.1:g.15606T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000284.4:c.518T>C MANE Select	NP_000275.1:p.Leu173Pro
ENST00000422285.7:c.518T>C MANE Select	ENSP00000394382.2:p.Leu173Pro
NM_000284.3:c.518T>C	NP_000275.1:p.Leu173Pro
NM_001173454.1:c.632T>C	NP_001166925.1:p.Leu211Pro
NM_001173454.2:c.632T>C	NP_001166925.1:p.Leu211Pro
NM_001173455.1:c.539T>C	NP_001166926.1:p.Leu180Pro
NM_001173455.2:c.539T>C	NP_001166926.1:p.Leu180Pro
NM_001173456.1:c.511-851T>C	NP_001166927.1:n.511-851T>C
NM_001173456.2:c.511-851T>C	NP_001166927.1:n.511-851T>C
ENST00000355808.10:c.539T>C	ENSP00000348062.6:p.Leu180Pro
ENST00000355808.9:c.539T>C	ENSP00000348062.5:p.Leu180Pro
ENST00000379805.4:c.*210T>C	ENSP00000369133.3:n.*210T>C
ENST00000379806.9:c.632T>C	ENSP00000369134.5:p.Leu211Pro
ENST00000417819.6:c.602T>C	ENSP00000404616.2:p.Leu201Pro
ENST00000422285.6:c.518T>C	ENSP00000394382.2:p.Leu173Pro
ENST00000423505.6:c.632T>C	ENSP00000406473.2:p.Leu211Pro
ENST00000479146.1:n.353T>C
ENST00000540249.5:c.511-851T>C	ENSP00000440761.1:n.511-851T>C
ENST00000545074.5:c.539T>C	ENSP00000438550.1:p.Leu180Pro
ENST00000696704.1:c.419-851T>C	ENSP00000512823.1:n.419-851T>C
ENST00000696705.1:c.426T>C	ENSP00000512824.1:p.Pro142=
XM_011545531.1:c.653T>C	XP_011543833.1:p.Leu218Pro
XM_011545532.1:c.646-851T>C	XP_011543834.1:n.646-851T>C
XM_017029574.2:c.625-851T>C	XP_016885063.1:n.625-851T>C