Canonical Allele Identifier: CA2418224620

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357696C= , CM000685.2:g.19357696C=	GRCh38
NC_000023.10:g.19375814C= , CM000685.1:g.19375814C=	GRCh37
NC_000023.9:g.19285735C=	NCBI36
NG_016781.1:g.18804C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.897C=	ENSP00000348062.6:p.His299=
ENST00000379805.4:c.*568C=	ENSP00000369133.3:n.*568C=
ENST00000417819.6:c.960C=	ENSP00000404616.2:p.His320=
ENST00000423505.6:c.990C=	ENSP00000406473.2:p.His330=
ENST00000481733.2:n.671C=
ENST00000696704.1:c.*208C=	ENSP00000512823.1:n.*208C=
ENST00000696705.1:c.*331C=	ENSP00000512824.1:n.*331C=
ENST00000422285.7:c.876C= MANE Select	ENSP00000394382.2:p.His292=
ENST00000379804.1:c.33C=	ENSP00000369132.1:p.His11=
ENST00000379806.9:c.990C=	ENSP00000369134.5:p.His330=
ENST00000422285.6:c.876C=	ENSP00000394382.2:p.His292=
ENST00000478795.1:n.315C=
ENST00000481733.1:n.304C=
ENST00000540249.5:c.783C=	ENSP00000440761.1:p.His261=
ENST00000545074.5:c.897C=	ENSP00000438550.1:p.His299=
NM_000284.3:c.876C=	NP_000275.1:p.His292=
NM_001173454.1:c.990C=	NP_001166925.1:p.His330=
NM_001173455.1:c.897C=	NP_001166926.1:p.His299=
NM_001173456.1:c.783C=	NP_001166927.1:p.His261=
XM_011545531.1:c.1011C=	XP_011543833.1:p.His337=
XM_011545532.1:c.918C=	XP_011543834.1:p.His306=
XM_017029574.2:c.897C=	XP_016885063.1:p.His299=
NM_000284.4:c.876C= MANE Select	NP_000275.1:p.His292=
NM_001173454.2:c.990C=	NP_001166925.1:p.His330=
NM_001173455.2:c.897C=	NP_001166926.1:p.His299=
NM_001173456.2:c.783C=	NP_001166927.1:p.His261=