Canonical Allele Identifier: CA2418223746

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355703C= , CM000685.2:g.19355703C=	GRCh38
NC_000023.10:g.19373821C= , CM000685.1:g.19373821C=	GRCh37
NC_000023.9:g.19283742C=	NCBI36
NG_016781.1:g.16811C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.798C=	ENSP00000348062.6:p.Ile266=
ENST00000379805.4:c.*469C=	ENSP00000369133.3:n.*469C=
ENST00000417819.6:c.861C=	ENSP00000404616.2:p.Ile287=
ENST00000423505.6:c.891C=	ENSP00000406473.2:p.Ile297=
ENST00000481733.2:n.572C=
ENST00000696704.1:c.*109C=	ENSP00000512823.1:n.*109C=
ENST00000696705.1:c.*232C=	ENSP00000512824.1:n.*232C=
ENST00000422285.7:c.777C= MANE Select	ENSP00000394382.2:p.Ile259=
ENST00000379804.1:c.-67C=	ENSP00000369132.1:n.-67C=
ENST00000379806.9:c.891C=	ENSP00000369134.5:p.Ile297=
ENST00000422285.6:c.777C=	ENSP00000394382.2:p.Ile259=
ENST00000481733.1:n.205C=
ENST00000540249.5:c.684C=	ENSP00000440761.1:p.Ile228=
ENST00000545074.5:c.798C=	ENSP00000438550.1:p.Ile266=
NM_000284.3:c.777C=	NP_000275.1:p.Ile259=
NM_001173454.1:c.891C=	NP_001166925.1:p.Ile297=
NM_001173455.1:c.798C=	NP_001166926.1:p.Ile266=
NM_001173456.1:c.684C=	NP_001166927.1:p.Ile228=
XM_011545531.1:c.912C=	XP_011543833.1:p.Ile304=
XM_011545532.1:c.819C=	XP_011543834.1:p.Ile273=
XM_017029574.2:c.798C=	XP_016885063.1:p.Ile266=
NM_000284.4:c.777C= MANE Select	NP_000275.1:p.Ile259=
NM_001173454.2:c.891C=	NP_001166925.1:p.Ile297=
NM_001173455.2:c.798C=	NP_001166926.1:p.Ile266=
NM_001173456.2:c.684C=	NP_001166927.1:p.Ile228=