Canonical Allele Identifier: CA2418225596

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359580A= , CM000685.2:g.19359580A=	GRCh38
NC_000023.10:g.19377698A= , CM000685.1:g.19377698A=	GRCh37
NC_000023.9:g.19287619A=	NCBI36
NG_016781.1:g.20688A=
NG_021184.1:g.160682T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1121A=	ENSP00000348062.6:p.His374=
ENST00000379805.4:c.*792A=	ENSP00000369133.3:n.*792A=
ENST00000417819.6:c.1184A=	ENSP00000404616.2:p.His395=
ENST00000423505.6:c.1214A=	ENSP00000406473.2:p.His405=
ENST00000481733.2:n.895A=
ENST00000696704.1:c.*432A=	ENSP00000512823.1:n.*432A=
ENST00000696705.1:c.*555A=	ENSP00000512824.1:n.*555A=
ENST00000422285.7:c.1100A= MANE Select	ENSP00000394382.2:p.His367=
ENST00000379804.1:c.257A=	ENSP00000369132.1:p.His86=
ENST00000379806.9:c.1214A=	ENSP00000369134.5:p.His405=
ENST00000422285.6:c.1100A=	ENSP00000394382.2:p.His367=
ENST00000478795.1:n.539A=
ENST00000540249.5:c.1007A=	ENSP00000440761.1:p.His336=
ENST00000545074.5:c.1121A=	ENSP00000438550.1:p.His374=
NM_000284.3:c.1100A=	NP_000275.1:p.His367=
NM_001173454.1:c.1214A=	NP_001166925.1:p.His405=
NM_001173455.1:c.1121A=	NP_001166926.1:p.His374=
NM_001173456.1:c.1007A=	NP_001166927.1:p.His336=
XM_011545531.1:c.1235A=	XP_011543833.1:p.His412=
XM_011545532.1:c.1142A=	XP_011543834.1:p.His381=
XM_017029574.2:c.1121A=	XP_016885063.1:p.His374=
NM_000284.4:c.1100A= MANE Select	NP_000275.1:p.His367=
NM_001173454.2:c.1214A=	NP_001166925.1:p.His405=
NM_001173455.2:c.1121A=	NP_001166926.1:p.His374=
NM_001173456.2:c.1007A=	NP_001166927.1:p.His336=