Canonical Allele Identifier: CA393511120

Gene: ETFA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.76274496T>C , CM000677.2:g.76274496T>C	GRCh38
NC_000015.9:g.76566837T>C , CM000677.1:g.76566837T>C	GRCh37
NC_000015.8:g.74353892T>C	NCBI36
NG_007077.2:g.41974A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000126.4:c.734-2A>G MANE Select	NP_000117.1:n.734-2A>G
ENST00000557943.6:c.734-2A>G MANE Select	ENSP00000452762.1:n.734-2A>G
NM_000126.3:c.734-2A>G	NP_000117.1:n.734-2A>G
NM_001127716.1:c.587-2A>G	NP_001121188.1:n.587-2A>G
NM_001127716.2:c.587-2A>G	NP_001121188.1:n.587-2A>G
ENST00000267950.12:c.*457-2A>G	ENSP00000267950.8:n.*457-2A>G
ENST00000433983.6:c.587-2A>G	ENSP00000399273.2:n.587-2A>G
ENST00000557943.5:c.734-2A>G	ENSP00000452762.1:n.734-2A>G
ENST00000558803.1:n.86-2A>G
ENST00000559075.5:n.758-2A>G
ENST00000559386.1:c.857-2A>G	ENSP00000452777.1:n.857-2A>G
ENST00000559386.2:c.734-2A>G	ENSP00000452777.2:n.734-2A>G
ENST00000559602.5:c.422-2A>G	ENSP00000452659.1:n.422-2A>G
ENST00000559758.5:n.575-2A>G
ENST00000559973.5:c.444-2A>G
ENST00000560044.5:c.*729-2A>G	ENSP00000452942.1:n.*729-2A>G
ENST00000560044.6:c.*729-2A>G	ENSP00000452942.1:n.*729-2A>G
ENST00000560345.5:c.642-2A>G
ENST00000560595.5:c.665-2A>G	ENSP00000453345.1:n.665-2A>G
ENST00000560595.6:c.953-2A>G	ENSP00000453345.2:n.953-2A>G
ENST00000560726.5:c.-47-2A>G	ENSP00000453098.1:n.-47-2A>G
ENST00000560816.5:n.293-2A>G
ENST00000560899.5:c.-47-2A>G	ENSP00000453422.1:n.-47-2A>G
ENST00000565910.6:c.734-2A>G	ENSP00000458001.2:n.734-2A>G
ENST00000685118.1:c.*729-2A>G	ENSP00000509473.1:n.*729-2A>G
ENST00000685548.1:c.734-2A>G	ENSP00000510343.1:n.734-2A>G
ENST00000685863.1:c.518-2A>G	ENSP00000509361.1:n.518-2A>G
ENST00000687293.1:c.809-2A>G	ENSP00000509928.1:n.809-2A>G
ENST00000687975.1:c.*610-2A>G	ENSP00000508690.1:n.*610-2A>G
ENST00000688154.1:c.734-2A>G	ENSP00000510637.1:n.734-2A>G
ENST00000688389.1:c.665-2A>G	ENSP00000510491.1:n.665-2A>G
ENST00000688637.1:n.815-2A>G
ENST00000688908.1:c.569-2A>G	ENSP00000510242.1:n.569-2A>G
ENST00000689730.1:c.716-2A>G	ENSP00000510006.1:n.716-2A>G
ENST00000689739.1:n.746-2A>G
ENST00000690610.1:c.734-2A>G	ENSP00000510473.1:n.734-2A>G
ENST00000691021.1:c.*729-2A>G	ENSP00000510805.1:n.*729-2A>G
ENST00000691071.1:n.513-2A>G
ENST00000691695.1:c.587-2A>G	ENSP00000509402.1:n.587-2A>G
ENST00000692691.1:c.857-2A>G	ENSP00000508808.1:n.857-2A>G
ENST00000693064.1:c.*709-2A>G	ENSP00000510720.1:n.*709-2A>G
XR_931766.1:n.789-2A>G
XR_931766.3:n.815-2A>G