Canonical Allele Identifier: CA2418225609

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359617T= , CM000685.2:g.19359617T=	GRCh38
NC_000023.10:g.19377735T= , CM000685.1:g.19377735T=	GRCh37
NC_000023.9:g.19287656T=	NCBI36
NG_016781.1:g.20725T=
NG_021184.1:g.160645A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1158T=	ENSP00000348062.6:p.Gly386=
ENST00000379805.4:c.*829T=	ENSP00000369133.3:n.*829T=
ENST00000417819.6:c.1221T=	ENSP00000404616.2:p.Gly407=
ENST00000423505.6:c.1251T=	ENSP00000406473.2:p.Gly417=
ENST00000481733.2:n.932T=
ENST00000696704.1:c.*469T=	ENSP00000512823.1:n.*469T=
ENST00000696705.1:c.*592T=	ENSP00000512824.1:n.*592T=
ENST00000422285.7:c.1137T= MANE Select	ENSP00000394382.2:p.Gly379=
ENST00000379804.1:c.294T=	ENSP00000369132.1:p.Gly98=
ENST00000379806.9:c.1251T=	ENSP00000369134.5:p.Gly417=
ENST00000422285.6:c.1137T=	ENSP00000394382.2:p.Gly379=
ENST00000478795.1:n.576T=
ENST00000540249.5:c.1044T=	ENSP00000440761.1:p.Gly348=
ENST00000545074.5:c.1158T=	ENSP00000438550.1:p.Gly386=
NM_000284.3:c.1137T=	NP_000275.1:p.Gly379=
NM_001173454.1:c.1251T=	NP_001166925.1:p.Gly417=
NM_001173455.1:c.1158T=	NP_001166926.1:p.Gly386=
NM_001173456.1:c.1044T=	NP_001166927.1:p.Gly348=
XM_011545531.1:c.1272T=	XP_011543833.1:p.Gly424=
XM_011545532.1:c.1179T=	XP_011543834.1:p.Gly393=
XM_017029574.2:c.1158T=	XP_016885063.1:p.Gly386=
NM_000284.4:c.1137T= MANE Select	NP_000275.1:p.Gly379=
NM_001173454.2:c.1251T=	NP_001166925.1:p.Gly417=
NM_001173455.2:c.1158T=	NP_001166926.1:p.Gly386=
NM_001173456.2:c.1044T=	NP_001166927.1:p.Gly348=