Canonical Allele Identifier: CA2418223617

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355452C= , CM000685.2:g.19355452C=	GRCh38
NC_000023.10:g.19373570C= , CM000685.1:g.19373570C=	GRCh37
NC_000023.9:g.19283491C=	NCBI36
NG_016781.1:g.16560C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000284.4:c.707C= MANE Select	NP_000275.1:p.Ala236=
ENST00000422285.7:c.707C= MANE Select	ENSP00000394382.2:p.Ala236=
NM_000284.3:c.707C=	NP_000275.1:p.Ala236=
NM_001173454.1:c.821C=	NP_001166925.1:p.Ala274=
NM_001173454.2:c.821C=	NP_001166925.1:p.Ala274=
NM_001173455.1:c.728C=	NP_001166926.1:p.Ala243=
NM_001173455.2:c.728C=	NP_001166926.1:p.Ala243=
NM_001173456.1:c.614C=	NP_001166927.1:p.Ala205=
NM_001173456.2:c.614C=	NP_001166927.1:p.Ala205=
ENST00000355808.10:c.728C=	ENSP00000348062.6:p.Ala243=
ENST00000379805.4:c.*399C=	ENSP00000369133.3:n.*399C=
ENST00000379806.9:c.821C=	ENSP00000369134.5:p.Ala274=
ENST00000417819.6:c.791C=	ENSP00000404616.2:p.Ala264=
ENST00000422285.6:c.707C=	ENSP00000394382.2:p.Ala236=
ENST00000423505.6:c.821C=	ENSP00000406473.2:p.Ala274=
ENST00000481733.1:n.135C=
ENST00000481733.2:n.502C=
ENST00000540249.5:c.614C=	ENSP00000440761.1:p.Ala205=
ENST00000545074.5:c.728C=	ENSP00000438550.1:p.Ala243=
ENST00000696704.1:c.*39C=	ENSP00000512823.1:n.*39C=
ENST00000696705.1:c.*162C=	ENSP00000512824.1:n.*162C=
XM_011545531.1:c.842C=	XP_011543833.1:p.Ala281=
XM_011545532.1:c.749C=	XP_011543834.1:p.Ala250=
XM_017029574.2:c.728C=	XP_016885063.1:p.Ala243=