Canonical Allele Identifier: CA10363057

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19354502C>T , CM000685.2:g.19354502C>T	GRCh38
NC_000023.10:g.19372620C>T , CM000685.1:g.19372620C>T	GRCh37
NC_000023.9:g.19282541C>T	NCBI36
NG_016781.1:g.15610C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000284.4:c.522C>T MANE Select	NP_000275.1:p.Gly174=
ENST00000422285.7:c.522C>T MANE Select	ENSP00000394382.2:p.Gly174=
NM_000284.3:c.522C>T	NP_000275.1:p.Gly174=
NM_001173454.1:c.636C>T	NP_001166925.1:p.Gly212=
NM_001173454.2:c.636C>T	NP_001166925.1:p.Gly212=
NM_001173455.1:c.543C>T	NP_001166926.1:p.Gly181=
NM_001173455.2:c.543C>T	NP_001166926.1:p.Gly181=
NM_001173456.1:c.511-847C>T	NP_001166927.1:n.511-847C>T
NM_001173456.2:c.511-847C>T	NP_001166927.1:n.511-847C>T
ENST00000355808.10:c.543C>T	ENSP00000348062.6:p.Gly181=
ENST00000355808.9:c.543C>T	ENSP00000348062.5:p.Gly181=
ENST00000379805.4:c.*214C>T	ENSP00000369133.3:n.*214C>T
ENST00000379806.9:c.636C>T	ENSP00000369134.5:p.Gly212=
ENST00000417819.6:c.606C>T	ENSP00000404616.2:p.Gly202=
ENST00000422285.6:c.522C>T	ENSP00000394382.2:p.Gly174=
ENST00000423505.6:c.636C>T	ENSP00000406473.2:p.Gly212=
ENST00000479146.1:n.357C>T
ENST00000540249.5:c.511-847C>T	ENSP00000440761.1:n.511-847C>T
ENST00000545074.5:c.543C>T	ENSP00000438550.1:p.Gly181=
ENST00000696704.1:c.419-847C>T	ENSP00000512823.1:n.419-847C>T
ENST00000696705.1:c.430C>T	ENSP00000512824.1:p.Arg144Cys
XM_011545531.1:c.657C>T	XP_011543833.1:p.Gly219=
XM_011545532.1:c.646-847C>T	XP_011543834.1:n.646-847C>T
XM_017029574.2:c.625-847C>T	XP_016885063.1:n.625-847C>T