Canonical Allele Identifier: CA393512772

Gene: ETFA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.76283826C>T , CM000677.2:g.76283826C>T	GRCh38
NC_000015.9:g.76576167C>T , CM000677.1:g.76576167C>T	GRCh37
NC_000015.8:g.74363222C>T	NCBI36
NG_007077.2:g.32644G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000126.4:c.665-1G>A MANE Select	NP_000117.1:n.665-1G>A
ENST00000557943.6:c.665-1G>A MANE Select	ENSP00000452762.1:n.665-1G>A
NM_000126.3:c.665-1G>A	NP_000117.1:n.665-1G>A
NM_001127716.1:c.518-1G>A	NP_001121188.1:n.518-1G>A
NM_001127716.2:c.518-1G>A	NP_001121188.1:n.518-1G>A
ENST00000267950.12:c.*388-1G>A	ENSP00000267950.8:n.*388-1G>A
ENST00000433983.6:c.518-1G>A	ENSP00000399273.2:n.518-1G>A
ENST00000557943.5:c.665-1G>A	ENSP00000452762.1:n.665-1G>A
ENST00000558803.1:n.16G>A
ENST00000559075.5:n.689-1G>A
ENST00000559386.1:c.788-1G>A	ENSP00000452777.1:n.788-1G>A
ENST00000559386.2:c.665-1G>A	ENSP00000452777.2:n.665-1G>A
ENST00000559602.5:c.353-1G>A	ENSP00000452659.1:n.353-1G>A
ENST00000559758.5:n.506-1G>A
ENST00000559973.5:c.375-1G>A
ENST00000560044.5:c.*660-1G>A	ENSP00000452942.1:n.*660-1G>A
ENST00000560044.6:c.*660-1G>A	ENSP00000452942.1:n.*660-1G>A
ENST00000560345.5:c.573-1G>A
ENST00000560595.5:c.664+1811G>A	ENSP00000453345.1:n.664+1811G>A
ENST00000560595.6:c.884-1G>A	ENSP00000453345.2:n.884-1G>A
ENST00000560726.5:c.-116-1G>A	ENSP00000453098.1:n.-116-1G>A
ENST00000560816.5:n.224-1G>A
ENST00000560899.5:c.-116-1G>A	ENSP00000453422.1:n.-116-1G>A
ENST00000565910.6:c.665-1G>A	ENSP00000458001.2:n.665-1G>A
ENST00000685118.1:c.*660-1G>A	ENSP00000509473.1:n.*660-1G>A
ENST00000685548.1:c.665-1G>A	ENSP00000510343.1:n.665-1G>A
ENST00000685863.1:c.517+1811G>A	ENSP00000509361.1:n.517+1811G>A
ENST00000687293.1:c.740-1G>A	ENSP00000509928.1:n.740-1G>A
ENST00000687975.1:c.*541-1G>A	ENSP00000508690.1:n.*541-1G>A
ENST00000688154.1:c.665-1G>A	ENSP00000510637.1:n.665-1G>A
ENST00000688389.1:c.664+1811G>A	ENSP00000510491.1:n.664+1811G>A
ENST00000688637.1:n.746-1G>A
ENST00000688908.1:c.500-1G>A	ENSP00000510242.1:n.500-1G>A
ENST00000689120.1:n.749-1G>A
ENST00000689730.1:c.647-1G>A	ENSP00000510006.1:n.647-1G>A
ENST00000689739.1:n.745+1811G>A
ENST00000690610.1:c.665-1G>A	ENSP00000510473.1:n.665-1G>A
ENST00000691021.1:c.*660-1G>A	ENSP00000510805.1:n.*660-1G>A
ENST00000691071.1:n.444-1G>A
ENST00000691695.1:c.518-1G>A	ENSP00000509402.1:n.518-1G>A
ENST00000692691.1:c.788-1G>A	ENSP00000508808.1:n.788-1G>A
ENST00000693064.1:c.*640-1G>A	ENSP00000510720.1:n.*640-1G>A
XR_931766.1:n.720-1G>A
XR_931766.3:n.746-1G>A