Canonical Allele Identifier: CA2418224613

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357675G= , CM000685.2:g.19357675G=	GRCh38
NC_000023.10:g.19375793G= , CM000685.1:g.19375793G=	GRCh37
NC_000023.9:g.19285714G=	NCBI36
NG_016781.1:g.18783G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.876G=	ENSP00000348062.6:p.Gln292=
ENST00000379805.4:c.*547G=	ENSP00000369133.3:n.*547G=
ENST00000417819.6:c.939G=	ENSP00000404616.2:p.Gln313=
ENST00000423505.6:c.969G=	ENSP00000406473.2:p.Gln323=
ENST00000481733.2:n.650G=
ENST00000696704.1:c.*187G=	ENSP00000512823.1:n.*187G=
ENST00000696705.1:c.*310G=	ENSP00000512824.1:n.*310G=
ENST00000422285.7:c.855G= MANE Select	ENSP00000394382.2:p.Gln285=
ENST00000379804.1:c.12G=	ENSP00000369132.1:p.Gln4=
ENST00000379806.9:c.969G=	ENSP00000369134.5:p.Gln323=
ENST00000422285.6:c.855G=	ENSP00000394382.2:p.Gln285=
ENST00000478795.1:n.294G=
ENST00000481733.1:n.283G=
ENST00000540249.5:c.762G=	ENSP00000440761.1:p.Gln254=
ENST00000545074.5:c.876G=	ENSP00000438550.1:p.Gln292=
NM_000284.3:c.855G=	NP_000275.1:p.Gln285=
NM_001173454.1:c.969G=	NP_001166925.1:p.Gln323=
NM_001173455.1:c.876G=	NP_001166926.1:p.Gln292=
NM_001173456.1:c.762G=	NP_001166927.1:p.Gln254=
XM_011545531.1:c.990G=	XP_011543833.1:p.Gln330=
XM_011545532.1:c.897G=	XP_011543834.1:p.Gln299=
XM_017029574.2:c.876G=	XP_016885063.1:p.Gln292=
NM_000284.4:c.855G= MANE Select	NP_000275.1:p.Gln285=
NM_001173454.2:c.969G=	NP_001166925.1:p.Gln323=
NM_001173455.2:c.876G=	NP_001166926.1:p.Gln292=
NM_001173456.2:c.762G=	NP_001166927.1:p.Gln254=