Canonical Allele Identifier: CA2418225608

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359613G= , CM000685.2:g.19359613G=	GRCh38
NC_000023.10:g.19377731G= , CM000685.1:g.19377731G=	GRCh37
NC_000023.9:g.19287652G=	NCBI36
NG_016781.1:g.20721G=
NG_021184.1:g.160649C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1154G=	ENSP00000348062.6:p.Arg385=
ENST00000379805.4:c.*825G=	ENSP00000369133.3:n.*825G=
ENST00000417819.6:c.1217G=	ENSP00000404616.2:p.Arg406=
ENST00000423505.6:c.1247G=	ENSP00000406473.2:p.Arg416=
ENST00000481733.2:n.928G=
ENST00000696704.1:c.*465G=	ENSP00000512823.1:n.*465G=
ENST00000696705.1:c.*588G=	ENSP00000512824.1:n.*588G=
ENST00000422285.7:c.1133G= MANE Select	ENSP00000394382.2:p.Arg378=
ENST00000379804.1:c.290G=	ENSP00000369132.1:p.Arg97=
ENST00000379806.9:c.1247G=	ENSP00000369134.5:p.Arg416=
ENST00000422285.6:c.1133G=	ENSP00000394382.2:p.Arg378=
ENST00000478795.1:n.572G=
ENST00000540249.5:c.1040G=	ENSP00000440761.1:p.Arg347=
ENST00000545074.5:c.1154G=	ENSP00000438550.1:p.Arg385=
NM_000284.3:c.1133G=	NP_000275.1:p.Arg378=
NM_001173454.1:c.1247G=	NP_001166925.1:p.Arg416=
NM_001173455.1:c.1154G=	NP_001166926.1:p.Arg385=
NM_001173456.1:c.1040G=	NP_001166927.1:p.Arg347=
XM_011545531.1:c.1268G=	XP_011543833.1:p.Arg423=
XM_011545532.1:c.1175G=	XP_011543834.1:p.Arg392=
XM_017029574.2:c.1154G=	XP_016885063.1:p.Arg385=
NM_000284.4:c.1133G= MANE Select	NP_000275.1:p.Arg378=
NM_001173454.2:c.1247G=	NP_001166925.1:p.Arg416=
NM_001173455.2:c.1154G=	NP_001166926.1:p.Arg385=
NM_001173456.2:c.1040G=	NP_001166927.1:p.Arg347=