Canonical Allele Identifier: CA2418223601

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355395C= , CM000685.2:g.19355395C=	GRCh38
NC_000023.10:g.19373513C= , CM000685.1:g.19373513C=	GRCh37
NC_000023.9:g.19283434C=	NCBI36
NG_016781.1:g.16503C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.671C=	ENSP00000348062.6:p.Pro224=
ENST00000379805.4:c.*342C=	ENSP00000369133.3:n.*342C=
ENST00000417819.6:c.734C=	ENSP00000404616.2:p.Pro245=
ENST00000423505.6:c.764C=	ENSP00000406473.2:p.Pro255=
ENST00000481733.2:n.445C=
ENST00000696704.1:c.465C=	ENSP00000512823.1:p.Thr155=
ENST00000696705.1:c.*105C=	ENSP00000512824.1:n.*105C=
ENST00000422285.7:c.650C= MANE Select	ENSP00000394382.2:p.Pro217=
ENST00000379806.9:c.764C=	ENSP00000369134.5:p.Pro255=
ENST00000422285.6:c.650C=	ENSP00000394382.2:p.Pro217=
ENST00000479146.1:n.485C=
ENST00000481733.1:n.78C=
ENST00000540249.5:c.557C=	ENSP00000440761.1:p.Pro186=
ENST00000545074.5:c.671C=	ENSP00000438550.1:p.Pro224=
NM_000284.3:c.650C=	NP_000275.1:p.Pro217=
NM_001173454.1:c.764C=	NP_001166925.1:p.Pro255=
NM_001173455.1:c.671C=	NP_001166926.1:p.Pro224=
NM_001173456.1:c.557C=	NP_001166927.1:p.Pro186=
XM_011545531.1:c.785C=	XP_011543833.1:p.Pro262=
XM_011545532.1:c.692C=	XP_011543834.1:p.Pro231=
XM_017029574.2:c.671C=	XP_016885063.1:p.Pro224=
NM_000284.4:c.650C= MANE Select	NP_000275.1:p.Pro217=
NM_001173454.2:c.764C=	NP_001166925.1:p.Pro255=
NM_001173455.2:c.671C=	NP_001166926.1:p.Pro224=
NM_001173456.2:c.557C=	NP_001166927.1:p.Pro186=