Canonical Allele Identifier: CA2418225727

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359775G= , CM000685.2:g.19359775G=	GRCh38
NC_000023.10:g.19377893G= , CM000685.1:g.19377893G=	GRCh37
NC_000023.9:g.19287814G=	NCBI36
NG_016781.1:g.20883G=
NG_021184.1:g.160487C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*122G=	ENSP00000348062.6:n.*122G=
ENST00000379805.4:c.*987G=	ENSP00000369133.3:n.*987G=
ENST00000417819.6:c.*122G=	ENSP00000404616.2:n.*122G=
ENST00000423505.6:c.*122G=	ENSP00000406473.2:n.*122G=
ENST00000481733.2:n.1090G=
ENST00000696704.1:c.*627G=	ENSP00000512823.1:n.*627G=
ENST00000696705.1:c.*750G=	ENSP00000512824.1:n.*750G=
ENST00000422285.7:c.*122G= MANE Select	ENSP00000394382.2:n.*122G=
ENST00000379804.1:c.*122G=	ENSP00000369132.1:n.*122G=
ENST00000379806.9:c.*122G=	ENSP00000369134.5:n.*122G=
ENST00000422285.6:c.*122G=	ENSP00000394382.2:n.*122G=
ENST00000478795.1:n.734G=
ENST00000540249.5:c.*122G=	ENSP00000440761.1:n.*122G=
ENST00000545074.5:c.*122G=	ENSP00000438550.1:n.*122G=
NM_000284.3:c.*122G=	NP_000275.1:n.*122G=
NM_001173454.1:c.*122G=	NP_001166925.1:n.*122G=
NM_001173455.1:c.*122G=	NP_001166926.1:n.*122G=
NM_001173456.1:c.*122G=	NP_001166927.1:n.*122G=
XM_011545531.1:c.*122G=	XP_011543833.1:n.*122G=
XM_011545532.1:c.*122G=	XP_011543834.1:n.*122G=
XM_017029574.2:c.*122G=	XP_016885063.1:n.*122G=
NM_000284.4:c.*122G= MANE Select	NP_000275.1:n.*122G=
NM_001173454.2:c.*122G=	NP_001166925.1:n.*122G=
NM_001173455.2:c.*122G=	NP_001166926.1:n.*122G=
NM_001173456.2:c.*122G=	NP_001166927.1:n.*122G=