Canonical Allele Identifier: CA3122534

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158699012A>G , CM000666.2:g.158699012A>G	GRCh38
NC_000004.11:g.159620164A>G , CM000666.1:g.159620164A>G	GRCh37
NC_000004.10:g.159839614A>G	NCBI36
NG_007078.2:g.31671A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.998A>G MANE Select	NP_004444.2:p.Tyr333Cys
ENST00000511912.6:c.998A>G MANE Select	ENSP00000426638.1:p.Tyr333Cys
NM_001281737.1:c.857A>G	NP_001268666.1:p.Tyr286Cys
NM_001281737.2:c.857A>G	NP_001268666.1:p.Tyr286Cys
NM_001281738.1:c.815A>G	NP_001268667.1:p.Tyr272Cys
NM_004453.3:c.998A>G	NP_004444.2:p.Tyr333Cys
ENST00000307738.5:c.857A>G	ENSP00000303552.5:p.Tyr286Cys
ENST00000506422.1:n.87-4411A>G
ENST00000511912.5:c.998A>G	ENSP00000426638.1:p.Tyr333Cys
ENST00000681978.1:n.2534A>G
ENST00000682178.1:n.2030A>G
ENST00000682345.1:c.*698A>G	ENSP00000508122.1:n.*698A>G
ENST00000682452.1:n.1329A>G
ENST00000682456.1:c.857A>G	ENSP00000508240.1:p.Tyr286Cys
ENST00000682566.1:n.1781A>G
ENST00000682613.1:n.1310A>G
ENST00000682734.1:c.-176A>G	ENSP00000507860.1:n.-176A>G
ENST00000682820.1:n.1035A>G
ENST00000683004.1:c.*809+1313A>G	ENSP00000506936.1:n.*809+1313A>G
ENST00000683079.1:c.*378A>G	ENSP00000507296.1:n.*378A>G
ENST00000683081.1:c.*835A>G	ENSP00000507722.1:n.*835A>G
ENST00000683181.1:n.232A>G
ENST00000683305.1:c.815A>G	ENSP00000508043.1:p.Tyr272Cys
ENST00000683448.1:c.503A>G	ENSP00000506931.1:p.Tyr168Cys
ENST00000683478.1:c.*349A>G	ENSP00000507793.1:n.*349A>G
ENST00000683483.1:c.972+1313A>G	ENSP00000507719.1:n.972+1313A>G
ENST00000683751.1:c.503A>G	ENSP00000506944.1:p.Tyr168Cys
ENST00000684036.1:c.815A>G	ENSP00000507276.1:p.Tyr272Cys
ENST00000684129.1:c.-221A>G	ENSP00000507174.1:n.-221A>G
ENST00000684209.1:n.1373A>G
ENST00000684296.1:c.998A>G	ENSP00000507740.1:p.Tyr333Cys
ENST00000684505.1:c.947A>G	ENSP00000508237.1:p.Tyr316Cys
ENST00000684552.1:c.998A>G	ENSP00000506899.1:p.Tyr333Cys
ENST00000684611.1:n.2726A>G
ENST00000684622.1:c.998A>G	ENSP00000507546.1:p.Tyr333Cys
ENST00000684627.1:c.815A>G	ENSP00000507471.1:p.Tyr272Cys
ENST00000684641.1:c.831+3369A>G	ENSP00000507642.1:n.831+3369A>G
ENST00000684675.1:c.998A>G	ENSP00000506934.1:p.Tyr333Cys
ENST00000684749.1:n.1067A>G
XM_024453935.1:c.815A>G	XP_024309703.1:p.Tyr272Cys