Canonical Allele Identifier: CA358574497
Community Standard Title: NM_004453.4(ETFDH):c.380T>G (p.Leu127Arg)
Gene: ETFDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.158682399T>G , CM000666.2:g.158682399T>G GRCh38
NC_000004.11:g.159603551T>G , CM000666.1:g.159603551T>G GRCh37
NC_000004.10:g.159823001T>G NCBI36
NG_007078.2:g.15058T>G

Transcript Alleles

HGVS Amino-acid Change
NM_004453.4:c.380T>G MANE Select NP_004444.2:p.Leu127Arg
ENST00000511912.6:c.380T>G MANE Select ENSP00000426638.1:p.Leu127Arg
NM_001281737.1:c.239T>G NP_001268666.1:p.Leu80Arg
NM_001281737.2:c.239T>G NP_001268666.1:p.Leu80Arg
NM_001281738.1:c.197T>G NP_001268667.1:p.Leu66Arg
NM_004453.3:c.380T>G NP_004444.2:p.Leu127Arg
ENST00000307738.5:c.239T>G ENSP00000303552.5:p.Leu80Arg
ENST00000436096.2:n.565T>G
ENST00000436096.3:n.631T>G
ENST00000506422.1:n.86+9909T>G
ENST00000507475.5:c.-90-2193T>G ENSP00000422735.1:n.-90-2193T>G
ENST00000507475.6:n.179-2193T>G
ENST00000511912.5:c.380T>G ENSP00000426638.1:p.Leu127Arg
ENST00000514148.1:n.458T>G
ENST00000681978.1:n.629T>G
ENST00000682178.1:n.1412T>G
ENST00000682345.1:c.*199T>G ENSP00000508122.1:n.*199T>G
ENST00000682409.1:n.2076T>G
ENST00000682452.1:n.711T>G
ENST00000682456.1:c.380T>G ENSP00000508240.1:p.Leu127Arg
ENST00000682601.1:n.571T>G
ENST00000682734.1:c.-649-2193T>G ENSP00000507860.1:n.-649-2193T>G
ENST00000682820.1:n.417T>G
ENST00000682910.1:n.687T>G
ENST00000683004.1:c.*217T>G ENSP00000506936.1:n.*217T>G
ENST00000683079.1:c.380T>G ENSP00000507296.1:p.Leu127Arg
ENST00000683081.1:c.*217T>G ENSP00000507722.1:n.*217T>G
ENST00000683123.1:n.2T>G
ENST00000683305.1:c.197T>G ENSP00000508043.1:p.Leu66Arg
ENST00000683448.1:c.-90-2193T>G ENSP00000506931.1:n.-90-2193T>G
ENST00000683478.1:c.380T>G ENSP00000507793.1:p.Leu127Arg
ENST00000683483.1:c.380T>G ENSP00000507719.1:p.Leu127Arg
ENST00000683750.1:n.503T>G
ENST00000683751.1:c.-90-2193T>G ENSP00000506944.1:n.-90-2193T>G
ENST00000683799.1:n.1696T>G
ENST00000684036.1:c.197T>G ENSP00000507276.1:p.Leu66Arg
ENST00000684129.1:c.-694-2193T>G ENSP00000507174.1:n.-694-2193T>G
ENST00000684209.1:n.620T>G
ENST00000684296.1:c.380T>G ENSP00000507740.1:p.Leu127Arg
ENST00000684505.1:c.380T>G ENSP00000508237.1:p.Leu127Arg
ENST00000684552.1:c.380T>G ENSP00000506899.1:p.Leu127Arg
ENST00000684611.1:n.2108T>G
ENST00000684622.1:c.380T>G ENSP00000507546.1:p.Leu127Arg
ENST00000684627.1:c.197T>G ENSP00000507471.1:p.Leu66Arg
ENST00000684641.1:c.380T>G ENSP00000507642.1:p.Leu127Arg
ENST00000684675.1:c.380T>G ENSP00000506934.1:p.Leu127Arg
ENST00000684749.1:n.449T>G
XM_024453935.1:c.197T>G XP_024309703.1:p.Leu66Arg