Canonical Allele Identifier: CA3122444

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158695582A>G , CM000666.2:g.158695582A>G	GRCh38
NC_000004.11:g.159616734A>G , CM000666.1:g.159616734A>G	GRCh37
NC_000004.10:g.159836184A>G	NCBI36
NG_007078.2:g.28241A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.770A>G MANE Select	NP_004444.2:p.Tyr257Cys
ENST00000511912.6:c.770A>G MANE Select	ENSP00000426638.1:p.Tyr257Cys
NM_001281737.1:c.629A>G	NP_001268666.1:p.Tyr210Cys
NM_001281737.2:c.629A>G	NP_001268666.1:p.Tyr210Cys
NM_001281738.1:c.587A>G	NP_001268667.1:p.Tyr196Cys
NM_004453.3:c.770A>G	NP_004444.2:p.Tyr257Cys
ENST00000307738.5:c.629A>G	ENSP00000303552.5:p.Tyr210Cys
ENST00000506422.1:n.87-7841A>G
ENST00000507475.5:c.275A>G	ENSP00000422735.1:p.Tyr92Cys
ENST00000507475.6:n.543A>G
ENST00000511912.5:c.770A>G	ENSP00000426638.1:p.Tyr257Cys
ENST00000681978.1:n.1019A>G
ENST00000682178.1:n.1802A>G
ENST00000682345.1:c.*470A>G	ENSP00000508122.1:n.*470A>G
ENST00000682452.1:n.1101A>G
ENST00000682456.1:c.770A>G	ENSP00000508240.1:p.Tyr257Cys
ENST00000682566.1:n.266A>G
ENST00000682601.1:n.961A>G
ENST00000682613.1:n.1082A>G
ENST00000682734.1:c.-404A>G	ENSP00000507860.1:n.-404A>G
ENST00000682820.1:n.807A>G
ENST00000683004.1:c.*607A>G	ENSP00000506936.1:n.*607A>G
ENST00000683079.1:c.*150A>G	ENSP00000507296.1:n.*150A>G
ENST00000683081.1:c.*607A>G	ENSP00000507722.1:n.*607A>G
ENST00000683305.1:c.587A>G	ENSP00000508043.1:p.Tyr196Cys
ENST00000683448.1:c.275A>G	ENSP00000506931.1:p.Tyr92Cys
ENST00000683478.1:c.*150A>G	ENSP00000507793.1:n.*150A>G
ENST00000683483.1:c.770A>G	ENSP00000507719.1:p.Tyr257Cys
ENST00000683751.1:c.275A>G	ENSP00000506944.1:p.Tyr92Cys
ENST00000684036.1:c.587A>G	ENSP00000507276.1:p.Tyr196Cys
ENST00000684129.1:c.-449A>G	ENSP00000507174.1:n.-449A>G
ENST00000684209.1:n.1145A>G
ENST00000684296.1:c.770A>G	ENSP00000507740.1:p.Tyr257Cys
ENST00000684505.1:c.719A>G	ENSP00000508237.1:p.Tyr240Cys
ENST00000684552.1:c.770A>G	ENSP00000506899.1:p.Tyr257Cys
ENST00000684611.1:n.2498A>G
ENST00000684622.1:c.770A>G	ENSP00000507546.1:p.Tyr257Cys
ENST00000684627.1:c.587A>G	ENSP00000507471.1:p.Tyr196Cys
ENST00000684641.1:c.770A>G	ENSP00000507642.1:p.Tyr257Cys
ENST00000684675.1:c.770A>G	ENSP00000506934.1:p.Tyr257Cys
ENST00000684749.1:n.839A>G
XM_024453935.1:c.587A>G	XP_024309703.1:p.Tyr196Cys