Canonical Allele Identifier: CA2418225582

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359542G= , CM000685.2:g.19359542G=	GRCh38
NC_000023.10:g.19377660G= , CM000685.1:g.19377660G=	GRCh37
NC_000023.9:g.19287581G=	NCBI36
NG_016781.1:g.20650G=
NG_021184.1:g.160720C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1083G=	ENSP00000348062.6:p.Thr361=
ENST00000379805.4:c.*754G=	ENSP00000369133.3:n.*754G=
ENST00000417819.6:c.1146G=	ENSP00000404616.2:p.Thr382=
ENST00000423505.6:c.1176G=	ENSP00000406473.2:p.Thr392=
ENST00000481733.2:n.857G=
ENST00000696704.1:c.*394G=	ENSP00000512823.1:n.*394G=
ENST00000696705.1:c.*517G=	ENSP00000512824.1:n.*517G=
ENST00000422285.7:c.1062G= MANE Select	ENSP00000394382.2:p.Thr354=
ENST00000379804.1:c.219G=	ENSP00000369132.1:p.Thr73=
ENST00000379806.9:c.1176G=	ENSP00000369134.5:p.Thr392=
ENST00000422285.6:c.1062G=	ENSP00000394382.2:p.Thr354=
ENST00000478795.1:n.501G=
ENST00000540249.5:c.969G=	ENSP00000440761.1:p.Thr323=
ENST00000545074.5:c.1083G=	ENSP00000438550.1:p.Thr361=
NM_000284.3:c.1062G=	NP_000275.1:p.Thr354=
NM_001173454.1:c.1176G=	NP_001166925.1:p.Thr392=
NM_001173455.1:c.1083G=	NP_001166926.1:p.Thr361=
NM_001173456.1:c.969G=	NP_001166927.1:p.Thr323=
XM_011545531.1:c.1197G=	XP_011543833.1:p.Thr399=
XM_011545532.1:c.1104G=	XP_011543834.1:p.Thr368=
XM_017029574.2:c.1083G=	XP_016885063.1:p.Thr361=
NM_000284.4:c.1062G= MANE Select	NP_000275.1:p.Thr354=
NM_001173454.2:c.1176G=	NP_001166925.1:p.Thr392=
NM_001173455.2:c.1083G=	NP_001166926.1:p.Thr361=
NM_001173456.2:c.969G=	NP_001166927.1:p.Thr323=