Canonical Allele Identifier: CA2418225601

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359593C= , CM000685.2:g.19359593C=	GRCh38
NC_000023.10:g.19377711C= , CM000685.1:g.19377711C=	GRCh37
NC_000023.9:g.19287632C=	NCBI36
NG_016781.1:g.20701C=
NG_021184.1:g.160669G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1134C=	ENSP00000348062.6:p.Ser378=
ENST00000379805.4:c.*805C=	ENSP00000369133.3:n.*805C=
ENST00000417819.6:c.1197C=	ENSP00000404616.2:p.Ser399=
ENST00000423505.6:c.1227C=	ENSP00000406473.2:p.Ser409=
ENST00000481733.2:n.908C=
ENST00000696704.1:c.*445C=	ENSP00000512823.1:n.*445C=
ENST00000696705.1:c.*568C=	ENSP00000512824.1:n.*568C=
ENST00000422285.7:c.1113C= MANE Select	ENSP00000394382.2:p.Ser371=
ENST00000379804.1:c.270C=	ENSP00000369132.1:p.Ser90=
ENST00000379806.9:c.1227C=	ENSP00000369134.5:p.Ser409=
ENST00000422285.6:c.1113C=	ENSP00000394382.2:p.Ser371=
ENST00000478795.1:n.552C=
ENST00000540249.5:c.1020C=	ENSP00000440761.1:p.Ser340=
ENST00000545074.5:c.1134C=	ENSP00000438550.1:p.Ser378=
NM_000284.3:c.1113C=	NP_000275.1:p.Ser371=
NM_001173454.1:c.1227C=	NP_001166925.1:p.Ser409=
NM_001173455.1:c.1134C=	NP_001166926.1:p.Ser378=
NM_001173456.1:c.1020C=	NP_001166927.1:p.Ser340=
XM_011545531.1:c.1248C=	XP_011543833.1:p.Ser416=
XM_011545532.1:c.1155C=	XP_011543834.1:p.Ser385=
XM_017029574.2:c.1134C=	XP_016885063.1:p.Ser378=
NM_000284.4:c.1113C= MANE Select	NP_000275.1:p.Ser371=
NM_001173454.2:c.1227C=	NP_001166925.1:p.Ser409=
NM_001173455.2:c.1134C=	NP_001166926.1:p.Ser378=
NM_001173456.2:c.1020C=	NP_001166927.1:p.Ser340=