Canonical Allele Identifier: CA3065116251

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358970G= , CM000685.2:g.19358970G=	GRCh38
NC_000023.10:g.19377088G= , CM000685.1:g.19377088G=	GRCh37
NC_000023.9:g.19287009G=	NCBI36
NG_016781.1:g.20078G=
NG_021184.1:g.161292C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.975G=	ENSP00000348062.6:p.Met325=
ENST00000379805.4:c.*646G=	ENSP00000369133.3:n.*646G=
ENST00000417819.6:c.1038G=	ENSP00000404616.2:p.Met346=
ENST00000423505.6:c.1068G=	ENSP00000406473.2:p.Met356=
ENST00000481733.2:n.749G=
ENST00000696704.1:c.*286G=	ENSP00000512823.1:n.*286G=
ENST00000696705.1:c.*409G=	ENSP00000512824.1:n.*409G=
ENST00000422285.7:c.954G= MANE Select	ENSP00000394382.2:p.Met318=
ENST00000379804.1:c.111G=	ENSP00000369132.1:p.Met37=
ENST00000379806.9:c.1068G=	ENSP00000369134.5:p.Met356=
ENST00000422285.6:c.954G=	ENSP00000394382.2:p.Met318=
ENST00000478795.1:n.393G=
ENST00000481733.1:n.382G=
ENST00000540249.5:c.861G=	ENSP00000440761.1:p.Met287=
ENST00000545074.5:c.975G=	ENSP00000438550.1:p.Met325=
NM_000284.3:c.954G=	NP_000275.1:p.Met318=
NM_001173454.1:c.1068G=	NP_001166925.1:p.Met356=
NM_001173455.1:c.975G=	NP_001166926.1:p.Met325=
NM_001173456.1:c.861G=	NP_001166927.1:p.Met287=
XM_011545531.1:c.1089G=	XP_011543833.1:p.Met363=
XM_011545532.1:c.996G=	XP_011543834.1:p.Met332=
XM_017029574.2:c.975G=	XP_016885063.1:p.Met325=
NM_000284.4:c.954G= MANE Select	NP_000275.1:p.Met318=
NM_001173454.2:c.1068G=	NP_001166925.1:p.Met356=
NM_001173455.2:c.975G=	NP_001166926.1:p.Met325=
NM_001173456.2:c.861G=	NP_001166927.1:p.Met287=