Canonical Allele Identifier: CA412396868

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359580A>T , CM000685.2:g.19359580A>T	GRCh38
NC_000023.10:g.19377698A>T , CM000685.1:g.19377698A>T	GRCh37
NC_000023.9:g.19287619A>T	NCBI36
NG_016781.1:g.20688A>T
NG_021184.1:g.160682T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000284.4:c.1100A>T MANE Select	NP_000275.1:p.His367Leu
ENST00000422285.7:c.1100A>T MANE Select	ENSP00000394382.2:p.His367Leu
NM_000284.3:c.1100A>T	NP_000275.1:p.His367Leu
NM_001173454.1:c.1214A>T	NP_001166925.1:p.His405Leu
NM_001173454.2:c.1214A>T	NP_001166925.1:p.His405Leu
NM_001173455.1:c.1121A>T	NP_001166926.1:p.His374Leu
NM_001173455.2:c.1121A>T	NP_001166926.1:p.His374Leu
NM_001173456.1:c.1007A>T	NP_001166927.1:p.His336Leu
NM_001173456.2:c.1007A>T	NP_001166927.1:p.His336Leu
ENST00000355808.10:c.1121A>T	ENSP00000348062.6:p.His374Leu
ENST00000379804.1:c.257A>T	ENSP00000369132.1:p.His86Leu
ENST00000379805.4:c.*792A>T	ENSP00000369133.3:n.*792A>T
ENST00000379806.9:c.1214A>T	ENSP00000369134.5:p.His405Leu
ENST00000417819.6:c.1184A>T	ENSP00000404616.2:p.His395Leu
ENST00000422285.6:c.1100A>T	ENSP00000394382.2:p.His367Leu
ENST00000423505.6:c.1214A>T	ENSP00000406473.2:p.His405Leu
ENST00000478795.1:n.539A>T
ENST00000481733.2:n.895A>T
ENST00000540249.5:c.1007A>T	ENSP00000440761.1:p.His336Leu
ENST00000545074.5:c.1121A>T	ENSP00000438550.1:p.His374Leu
ENST00000696704.1:c.*432A>T	ENSP00000512823.1:n.*432A>T
ENST00000696705.1:c.*555A>T	ENSP00000512824.1:n.*555A>T
XM_011545531.1:c.1235A>T	XP_011543833.1:p.His412Leu
XM_011545532.1:c.1142A>T	XP_011543834.1:p.His381Leu
XM_017029574.2:c.1121A>T	XP_016885063.1:p.His374Leu