Canonical Allele Identifier: CA2418223632

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355494C= , CM000685.2:g.19355494C=	GRCh38
NC_000023.10:g.19373612C= , CM000685.1:g.19373612C=	GRCh37
NC_000023.9:g.19283533C=	NCBI36
NG_016781.1:g.16602C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.770C=	ENSP00000348062.6:p.Pro257=
ENST00000379805.4:c.*441C=	ENSP00000369133.3:n.*441C=
ENST00000417819.6:c.833C=	ENSP00000404616.2:p.Pro278=
ENST00000423505.6:c.863C=	ENSP00000406473.2:p.Pro288=
ENST00000481733.2:n.544C=
ENST00000696704.1:c.*81C=	ENSP00000512823.1:n.*81C=
ENST00000696705.1:c.*204C=	ENSP00000512824.1:n.*204C=
ENST00000422285.7:c.749C= MANE Select	ENSP00000394382.2:p.Pro250=
ENST00000379806.9:c.863C=	ENSP00000369134.5:p.Pro288=
ENST00000422285.6:c.749C=	ENSP00000394382.2:p.Pro250=
ENST00000481733.1:n.177C=
ENST00000540249.5:c.656C=	ENSP00000440761.1:p.Pro219=
ENST00000545074.5:c.770C=	ENSP00000438550.1:p.Pro257=
NM_000284.3:c.749C=	NP_000275.1:p.Pro250=
NM_001173454.1:c.863C=	NP_001166925.1:p.Pro288=
NM_001173455.1:c.770C=	NP_001166926.1:p.Pro257=
NM_001173456.1:c.656C=	NP_001166927.1:p.Pro219=
XM_011545531.1:c.884C=	XP_011543833.1:p.Pro295=
XM_011545532.1:c.791C=	XP_011543834.1:p.Pro264=
XM_017029574.2:c.770C=	XP_016885063.1:p.Pro257=
NM_000284.4:c.749C= MANE Select	NP_000275.1:p.Pro250=
NM_001173454.2:c.863C=	NP_001166925.1:p.Pro288=
NM_001173455.2:c.770C=	NP_001166926.1:p.Pro257=
NM_001173456.2:c.656C=	NP_001166927.1:p.Pro219=