Canonical Allele Identifier: CA2418222100

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19351299C= , CM000685.2:g.19351299C=	GRCh38
NC_000023.10:g.19369417C= , CM000685.1:g.19369417C=	GRCh37
NC_000023.9:g.19279338C=	NCBI36
NG_016781.1:g.12407C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.331C=	ENSP00000348062.6:p.Leu111=
ENST00000379805.4:c.310C=	ENSP00000369133.3:p.Leu104=
ENST00000417819.6:c.394C=	ENSP00000404616.2:p.Leu132=
ENST00000423505.6:c.424C=	ENSP00000406473.2:p.Leu142=
ENST00000696704.1:c.310C=	ENSP00000512823.1:p.Leu104=
ENST00000696705.1:c.310C=	ENSP00000512824.1:p.Leu104=
ENST00000422285.7:c.310C= MANE Select	ENSP00000394382.2:p.Leu104=
ENST00000355808.9:c.331C=	ENSP00000348062.5:p.Leu111=
ENST00000379805.3:c.310C=	ENSP00000369133.3:p.Leu104=
ENST00000379806.9:c.424C=	ENSP00000369134.5:p.Leu142=
ENST00000422285.6:c.310C=	ENSP00000394382.2:p.Leu104=
ENST00000423505.5:c.424C=	ENSP00000406473.1:p.Leu142=
ENST00000492364.1:n.412C=
ENST00000540249.5:c.310C=	ENSP00000440761.1:p.Leu104=
ENST00000545074.5:c.331C=	ENSP00000438550.1:p.Leu111=
NM_000284.3:c.310C=	NP_000275.1:p.Leu104=
NM_001173454.1:c.424C=	NP_001166925.1:p.Leu142=
NM_001173455.1:c.331C=	NP_001166926.1:p.Leu111=
NM_001173456.1:c.310C=	NP_001166927.1:p.Leu104=
XM_011545531.1:c.445C=	XP_011543833.1:p.Leu149=
XM_011545532.1:c.445C=	XP_011543834.1:p.Leu149=
XM_017029574.2:c.424C=	XP_016885063.1:p.Leu142=
NM_000284.4:c.310C= MANE Select	NP_000275.1:p.Leu104=
NM_001173454.2:c.424C=	NP_001166925.1:p.Leu142=
NM_001173455.2:c.331C=	NP_001166926.1:p.Leu111=
NM_001173456.2:c.310C=	NP_001166927.1:p.Leu104=