Canonical Allele Identifier: CA3122422

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158690384G>A , CM000666.2:g.158690384G>A	GRCh38
NC_000004.11:g.159611536G>A , CM000666.1:g.159611536G>A	GRCh37
NC_000004.10:g.159830986G>A	NCBI36
NG_007078.2:g.23043G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.643G>A MANE Select	NP_004444.2:p.Ala215Thr
ENST00000511912.6:c.643G>A MANE Select	ENSP00000426638.1:p.Ala215Thr
NM_001281737.1:c.502G>A	NP_001268666.1:p.Ala168Thr
NM_001281737.2:c.502G>A	NP_001268666.1:p.Ala168Thr
NM_001281738.1:c.460G>A	NP_001268667.1:p.Ala154Thr
NM_004453.3:c.643G>A	NP_004444.2:p.Ala215Thr
ENST00000307738.5:c.502G>A	ENSP00000303552.5:p.Ala168Thr
ENST00000506422.1:n.87-13039G>A
ENST00000507475.5:c.148G>A	ENSP00000422735.1:p.Ala50Thr
ENST00000507475.6:n.416G>A
ENST00000511912.5:c.643G>A	ENSP00000426638.1:p.Ala215Thr
ENST00000681978.1:n.892G>A
ENST00000682178.1:n.1675G>A
ENST00000682345.1:c.*343G>A	ENSP00000508122.1:n.*343G>A
ENST00000682452.1:n.974G>A
ENST00000682456.1:c.643G>A	ENSP00000508240.1:p.Ala215Thr
ENST00000682601.1:n.834G>A
ENST00000682734.1:c.-531G>A	ENSP00000507860.1:n.-531G>A
ENST00000682820.1:n.680G>A
ENST00000682910.1:n.950G>A
ENST00000683004.1:c.*480G>A	ENSP00000506936.1:n.*480G>A
ENST00000683079.1:c.*23G>A	ENSP00000507296.1:n.*23G>A
ENST00000683081.1:c.*480G>A	ENSP00000507722.1:n.*480G>A
ENST00000683305.1:c.460G>A	ENSP00000508043.1:p.Ala154Thr
ENST00000683448.1:c.148G>A	ENSP00000506931.1:p.Ala50Thr
ENST00000683478.1:c.*23G>A	ENSP00000507793.1:n.*23G>A
ENST00000683483.1:c.643G>A	ENSP00000507719.1:p.Ala215Thr
ENST00000683750.1:n.766G>A
ENST00000683751.1:c.148G>A	ENSP00000506944.1:p.Ala50Thr
ENST00000684036.1:c.460G>A	ENSP00000507276.1:p.Ala154Thr
ENST00000684129.1:c.-576G>A	ENSP00000507174.1:n.-576G>A
ENST00000684209.1:n.883G>A
ENST00000684296.1:c.643G>A	ENSP00000507740.1:p.Ala215Thr
ENST00000684505.1:c.592G>A	ENSP00000508237.1:p.Ala198Thr
ENST00000684552.1:c.643G>A	ENSP00000506899.1:p.Ala215Thr
ENST00000684611.1:n.2371G>A
ENST00000684622.1:c.643G>A	ENSP00000507546.1:p.Ala215Thr
ENST00000684627.1:c.460G>A	ENSP00000507471.1:p.Ala154Thr
ENST00000684641.1:c.643G>A	ENSP00000507642.1:p.Ala215Thr
ENST00000684675.1:c.643G>A	ENSP00000506934.1:p.Ala215Thr
ENST00000684749.1:n.712G>A
XM_024453935.1:c.460G>A	XP_024309703.1:p.Ala154Thr