Canonical Allele Identifier: CA393510499

Gene: ETFA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.76274435G>A , CM000677.2:g.76274435G>A	GRCh38
NC_000015.9:g.76566776G>A , CM000677.1:g.76566776G>A	GRCh37
NC_000015.8:g.74353831G>A	NCBI36
NG_007077.2:g.42035C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000126.4:c.793C>T MANE Select	NP_000117.1:p.Gln265Ter
ENST00000557943.6:c.793C>T MANE Select	ENSP00000452762.1:p.Gln265Ter
NM_000126.3:c.793C>T	NP_000117.1:p.Gln265Ter
NM_001127716.1:c.646C>T	NP_001121188.1:p.Gln216Ter
NM_001127716.2:c.646C>T	NP_001121188.1:p.Gln216Ter
ENST00000267950.12:c.*516C>T	ENSP00000267950.8:n.*516C>T
ENST00000433983.6:c.646C>T	ENSP00000399273.2:p.Gln216Ter
ENST00000557943.5:c.793C>T	ENSP00000452762.1:p.Gln265Ter
ENST00000558803.1:n.145C>T
ENST00000559075.5:n.817C>T
ENST00000559386.2:c.793C>T	ENSP00000452777.2:p.Gln265Ter
ENST00000559602.5:c.481C>T	ENSP00000452659.1:p.Gln161Ter
ENST00000559758.5:n.634C>T
ENST00000559973.5:c.503C>T
ENST00000560044.5:c.*788C>T	ENSP00000452942.1:n.*788C>T
ENST00000560044.6:c.*788C>T	ENSP00000452942.1:n.*788C>T
ENST00000560345.5:c.701C>T
ENST00000560595.5:c.724C>T	ENSP00000453345.1:p.Gln242Ter
ENST00000560595.6:c.1012C>T	ENSP00000453345.2:p.Gln338Ter
ENST00000560726.5:c.13C>T	ENSP00000453098.1:p.Gln5Ter
ENST00000560816.5:n.352C>T
ENST00000560899.5:c.13C>T	ENSP00000453422.1:p.Gln5Ter
ENST00000565910.6:c.793C>T	ENSP00000458001.2:p.Gln265Ter
ENST00000685118.1:c.*788C>T	ENSP00000509473.1:n.*788C>T
ENST00000685548.1:c.793C>T	ENSP00000510343.1:p.Gln265Ter
ENST00000685863.1:c.577C>T	ENSP00000509361.1:p.Gln193Ter
ENST00000687293.1:c.868C>T	ENSP00000509928.1:p.Gln290Ter
ENST00000687975.1:c.*669C>T	ENSP00000508690.1:n.*669C>T
ENST00000688154.1:c.793C>T	ENSP00000510637.1:p.Gln265Ter
ENST00000688389.1:c.724C>T	ENSP00000510491.1:p.Gln242Ter
ENST00000688637.1:n.874C>T
ENST00000688908.1:c.628C>T	ENSP00000510242.1:p.Gln210Ter
ENST00000689730.1:c.775C>T	ENSP00000510006.1:p.Gln259Ter
ENST00000689739.1:n.805C>T
ENST00000690610.1:c.793C>T	ENSP00000510473.1:p.Gln265Ter
ENST00000691021.1:c.*788C>T	ENSP00000510805.1:n.*788C>T
ENST00000691071.1:n.572C>T
ENST00000691695.1:c.646C>T	ENSP00000509402.1:p.Gln216Ter
ENST00000692691.1:c.916C>T	ENSP00000508808.1:p.Gln306Ter
ENST00000693064.1:c.*768C>T	ENSP00000510720.1:n.*768C>T
XR_931766.1:n.848C>T
XR_931766.3:n.874C>T