Canonical Allele Identifier: CA2418223605

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355408C= , CM000685.2:g.19355408C=	GRCh38
NC_000023.10:g.19373526C= , CM000685.1:g.19373526C=	GRCh37
NC_000023.9:g.19283447C=	NCBI36
NG_016781.1:g.16516C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.684C=	ENSP00000348062.6:p.Ile228=
ENST00000379805.4:c.*355C=	ENSP00000369133.3:n.*355C=
ENST00000417819.6:c.747C=	ENSP00000404616.2:p.Ile249=
ENST00000423505.6:c.777C=	ENSP00000406473.2:p.Ile259=
ENST00000481733.2:n.458C=
ENST00000696704.1:c.478C=	ENSP00000512823.1:p.Leu160=
ENST00000696705.1:c.*118C=	ENSP00000512824.1:n.*118C=
ENST00000422285.7:c.663C= MANE Select	ENSP00000394382.2:p.Ile221=
ENST00000379806.9:c.777C=	ENSP00000369134.5:p.Ile259=
ENST00000422285.6:c.663C=	ENSP00000394382.2:p.Ile221=
ENST00000479146.1:n.498C=
ENST00000481733.1:n.91C=
ENST00000540249.5:c.570C=	ENSP00000440761.1:p.Ile190=
ENST00000545074.5:c.684C=	ENSP00000438550.1:p.Ile228=
NM_000284.3:c.663C=	NP_000275.1:p.Ile221=
NM_001173454.1:c.777C=	NP_001166925.1:p.Ile259=
NM_001173455.1:c.684C=	NP_001166926.1:p.Ile228=
NM_001173456.1:c.570C=	NP_001166927.1:p.Ile190=
XM_011545531.1:c.798C=	XP_011543833.1:p.Ile266=
XM_011545532.1:c.705C=	XP_011543834.1:p.Ile235=
XM_017029574.2:c.684C=	XP_016885063.1:p.Ile228=
NM_000284.4:c.663C= MANE Select	NP_000275.1:p.Ile221=
NM_001173454.2:c.777C=	NP_001166925.1:p.Ile259=
NM_001173455.2:c.684C=	NP_001166926.1:p.Ile228=
NM_001173456.2:c.570C=	NP_001166927.1:p.Ile190=