Canonical Allele Identifier: CA2418225626

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359645G= , CM000685.2:g.19359645G=	GRCh38
NC_000023.10:g.19377763G= , CM000685.1:g.19377763G=	GRCh37
NC_000023.9:g.19287684G=	NCBI36
NG_016781.1:g.20753G=
NG_021184.1:g.160617C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1186G=	ENSP00000348062.6:p.Val396=
ENST00000379805.4:c.*857G=	ENSP00000369133.3:n.*857G=
ENST00000417819.6:c.1249G=	ENSP00000404616.2:p.Val417=
ENST00000423505.6:c.1279G=	ENSP00000406473.2:p.Val427=
ENST00000481733.2:n.960G=
ENST00000696704.1:c.*497G=	ENSP00000512823.1:n.*497G=
ENST00000696705.1:c.*620G=	ENSP00000512824.1:n.*620G=
ENST00000422285.7:c.1165G= MANE Select	ENSP00000394382.2:p.Val389=
ENST00000379804.1:c.322G=	ENSP00000369132.1:p.Val108=
ENST00000379806.9:c.1279G=	ENSP00000369134.5:p.Val427=
ENST00000422285.6:c.1165G=	ENSP00000394382.2:p.Val389=
ENST00000478795.1:n.604G=
ENST00000540249.5:c.1072G=	ENSP00000440761.1:p.Val358=
ENST00000545074.5:c.1186G=	ENSP00000438550.1:p.Val396=
NM_000284.3:c.1165G=	NP_000275.1:p.Val389=
NM_001173454.1:c.1279G=	NP_001166925.1:p.Val427=
NM_001173455.1:c.1186G=	NP_001166926.1:p.Val396=
NM_001173456.1:c.1072G=	NP_001166927.1:p.Val358=
XM_011545531.1:c.1300G=	XP_011543833.1:p.Val434=
XM_011545532.1:c.1207G=	XP_011543834.1:p.Val403=
XM_017029574.2:c.1186G=	XP_016885063.1:p.Val396=
NM_000284.4:c.1165G= MANE Select	NP_000275.1:p.Val389=
NM_001173454.2:c.1279G=	NP_001166925.1:p.Val427=
NM_001173455.2:c.1186G=	NP_001166926.1:p.Val396=
NM_001173456.2:c.1072G=	NP_001166927.1:p.Val358=