Canonical Allele Identifier: CA2418225607

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359612C= , CM000685.2:g.19359612C=	GRCh38
NC_000023.10:g.19377730C= , CM000685.1:g.19377730C=	GRCh37
NC_000023.9:g.19287651C=	NCBI36
NG_016781.1:g.20720C=
NG_021184.1:g.160650G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000284.4:c.1132C= MANE Select	NP_000275.1:p.Arg378=
ENST00000422285.7:c.1132C= MANE Select	ENSP00000394382.2:p.Arg378=
NM_000284.3:c.1132C=	NP_000275.1:p.Arg378=
NM_001173454.1:c.1246C=	NP_001166925.1:p.Arg416=
NM_001173454.2:c.1246C=	NP_001166925.1:p.Arg416=
NM_001173455.1:c.1153C=	NP_001166926.1:p.Arg385=
NM_001173455.2:c.1153C=	NP_001166926.1:p.Arg385=
NM_001173456.1:c.1039C=	NP_001166927.1:p.Arg347=
NM_001173456.2:c.1039C=	NP_001166927.1:p.Arg347=
ENST00000355808.10:c.1153C=	ENSP00000348062.6:p.Arg385=
ENST00000379804.1:c.289C=	ENSP00000369132.1:p.Arg97=
ENST00000379805.4:c.*824C=	ENSP00000369133.3:n.*824C=
ENST00000379806.9:c.1246C=	ENSP00000369134.5:p.Arg416=
ENST00000417819.6:c.1216C=	ENSP00000404616.2:p.Arg406=
ENST00000422285.6:c.1132C=	ENSP00000394382.2:p.Arg378=
ENST00000423505.6:c.1246C=	ENSP00000406473.2:p.Arg416=
ENST00000478795.1:n.571C=
ENST00000481733.2:n.927C=
ENST00000540249.5:c.1039C=	ENSP00000440761.1:p.Arg347=
ENST00000545074.5:c.1153C=	ENSP00000438550.1:p.Arg385=
ENST00000696704.1:c.*464C=	ENSP00000512823.1:n.*464C=
ENST00000696705.1:c.*587C=	ENSP00000512824.1:n.*587C=
XM_011545531.1:c.1267C=	XP_011543833.1:p.Arg423=
XM_011545532.1:c.1174C=	XP_011543834.1:p.Arg392=
XM_017029574.2:c.1153C=	XP_016885063.1:p.Arg385=