Canonical Allele Identifier: CA2418225618

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359637T= , CM000685.2:g.19359637T=	GRCh38
NC_000023.10:g.19377755T= , CM000685.1:g.19377755T=	GRCh37
NC_000023.9:g.19287676T=	NCBI36
NG_016781.1:g.20745T=
NG_021184.1:g.160625A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1178T=	ENSP00000348062.6:p.Phe393=
ENST00000379805.4:c.*849T=	ENSP00000369133.3:n.*849T=
ENST00000417819.6:c.1241T=	ENSP00000404616.2:p.Phe414=
ENST00000423505.6:c.1271T=	ENSP00000406473.2:p.Phe424=
ENST00000481733.2:n.952T=
ENST00000696704.1:c.*489T=	ENSP00000512823.1:n.*489T=
ENST00000696705.1:c.*612T=	ENSP00000512824.1:n.*612T=
ENST00000422285.7:c.1157T= MANE Select	ENSP00000394382.2:p.Phe386=
ENST00000379804.1:c.314T=	ENSP00000369132.1:p.Phe105=
ENST00000379806.9:c.1271T=	ENSP00000369134.5:p.Phe424=
ENST00000422285.6:c.1157T=	ENSP00000394382.2:p.Phe386=
ENST00000478795.1:n.596T=
ENST00000540249.5:c.1064T=	ENSP00000440761.1:p.Phe355=
ENST00000545074.5:c.1178T=	ENSP00000438550.1:p.Phe393=
NM_000284.3:c.1157T=	NP_000275.1:p.Phe386=
NM_001173454.1:c.1271T=	NP_001166925.1:p.Phe424=
NM_001173455.1:c.1178T=	NP_001166926.1:p.Phe393=
NM_001173456.1:c.1064T=	NP_001166927.1:p.Phe355=
XM_011545531.1:c.1292T=	XP_011543833.1:p.Phe431=
XM_011545532.1:c.1199T=	XP_011543834.1:p.Phe400=
XM_017029574.2:c.1178T=	XP_016885063.1:p.Phe393=
NM_000284.4:c.1157T= MANE Select	NP_000275.1:p.Phe386=
NM_001173454.2:c.1271T=	NP_001166925.1:p.Phe424=
NM_001173455.2:c.1178T=	NP_001166926.1:p.Phe393=
NM_001173456.2:c.1064T=	NP_001166927.1:p.Phe355=