Canonical Allele Identifier: CA358565178

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158706829G>A , CM000666.2:g.158706829G>A	GRCh38
NC_000004.11:g.159627981G>A , CM000666.1:g.159627981G>A	GRCh37
NC_000004.10:g.159847431G>A	NCBI36
NG_007078.2:g.39488G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1669G>A MANE Select	NP_004444.2:p.Glu557Lys
ENST00000511912.6:c.1669G>A MANE Select	ENSP00000426638.1:p.Glu557Lys
NM_001281737.1:c.1528G>A	NP_001268666.1:p.Glu510Lys
NM_001281737.2:c.1528G>A	NP_001268666.1:p.Glu510Lys
NM_001281738.1:c.1486G>A	NP_001268667.1:p.Glu496Lys
NM_004453.3:c.1669G>A	NP_004444.2:p.Glu557Lys
ENST00000307738.5:c.1528G>A	ENSP00000303552.5:p.Glu510Lys
ENST00000506422.1:n.639G>A
ENST00000511912.5:c.1669G>A	ENSP00000426638.1:p.Glu557Lys
ENST00000681978.1:n.3205G>A
ENST00000682178.1:n.2701G>A
ENST00000682345.1:c.*1369G>A	ENSP00000508122.1:n.*1369G>A
ENST00000682452.1:n.2000G>A
ENST00000682456.1:c.1528G>A	ENSP00000508240.1:p.Glu510Lys
ENST00000682566.1:n.2452G>A
ENST00000682613.1:n.1981G>A
ENST00000682734.1:c.496G>A	ENSP00000507860.1:p.Glu166Lys
ENST00000682820.1:n.1706G>A
ENST00000683004.1:c.*1362G>A	ENSP00000506936.1:n.*1362G>A
ENST00000683079.1:c.*1094G>A	ENSP00000507296.1:n.*1094G>A
ENST00000683081.1:c.*1506G>A	ENSP00000507722.1:n.*1506G>A
ENST00000683181.1:n.948G>A
ENST00000683209.1:n.3995G>A
ENST00000683305.1:c.1486G>A	ENSP00000508043.1:p.Glu496Lys
ENST00000683448.1:c.*589G>A	ENSP00000506931.1:n.*589G>A
ENST00000683478.1:c.*1020G>A	ENSP00000507793.1:n.*1020G>A
ENST00000683483.1:c.1525G>A	ENSP00000507719.1:p.Glu509Lys
ENST00000683622.1:n.1383G>A
ENST00000683751.1:c.1174G>A	ENSP00000506944.1:p.Glu392Lys
ENST00000684036.1:c.1486G>A	ENSP00000507276.1:p.Glu496Lys
ENST00000684129.1:c.496G>A	ENSP00000507174.1:p.Glu166Lys
ENST00000684209.1:n.2044G>A
ENST00000684296.1:c.*589G>A	ENSP00000507740.1:n.*589G>A
ENST00000684505.1:c.1618G>A	ENSP00000508237.1:p.Glu540Lys
ENST00000684552.1:c.*3088G>A	ENSP00000506899.1:n.*3088G>A
ENST00000684611.1:n.3397G>A
ENST00000684622.1:c.1669G>A	ENSP00000507546.1:p.Glu557Lys
ENST00000684627.1:c.1486G>A	ENSP00000507471.1:p.Glu496Lys
ENST00000684641.1:c.1384G>A	ENSP00000507642.1:p.Glu462Lys
ENST00000684675.1:c.*516G>A	ENSP00000506934.1:n.*516G>A
ENST00000684749.1:n.1738G>A
XM_024453935.1:c.1486G>A	XP_024309703.1:p.Glu496Lys