Canonical Allele Identifier: CA7673864

Gene: ETFA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.76295711G>A , CM000677.2:g.76295711G>A	GRCh38
NC_000015.9:g.76588052G>A , CM000677.1:g.76588052G>A	GRCh37
NC_000015.8:g.74375107G>A	NCBI36
NG_007077.2:g.20759C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000126.4:c.66C>T MANE Select	NP_000117.1:p.Thr22=
ENST00000557943.6:c.66C>T MANE Select	ENSP00000452762.1:p.Thr22=
NM_000126.3:c.66C>T	NP_000117.1:p.Thr22=
NM_001127716.1:c.40-3011C>T	NP_001121188.1:n.40-3011C>T
NM_001127716.2:c.40-3011C>T	NP_001121188.1:n.40-3011C>T
ENST00000267950.12:c.66C>T	ENSP00000267950.8:p.Thr22=
ENST00000433983.6:c.40-3011C>T	ENSP00000399273.2:n.40-3011C>T
ENST00000557943.5:c.66C>T	ENSP00000452762.1:p.Thr22=
ENST00000559075.5:n.90C>T
ENST00000559386.1:c.66C>T	ENSP00000452777.1:p.Thr22=
ENST00000559386.2:c.66C>T	ENSP00000452777.2:p.Thr22=
ENST00000559602.5:c.40-7766C>T	ENSP00000452659.1:n.40-7766C>T
ENST00000560044.5:c.*61C>T	ENSP00000452942.1:n.*61C>T
ENST00000560044.6:c.*61C>T	ENSP00000452942.1:n.*61C>T
ENST00000560309.5:c.*61C>T	ENSP00000453753.1:n.*61C>T
ENST00000560595.5:c.66C>T	ENSP00000453345.1:p.Thr22=
ENST00000560595.6:c.66C>T	ENSP00000453345.2:p.Thr22=
ENST00000560726.5:c.-512-3198C>T	ENSP00000453098.1:n.-512-3198C>T
ENST00000560899.5:c.-512-3198C>T	ENSP00000453422.1:n.-512-3198C>T
ENST00000561092.1:n.80C>T
ENST00000565910.6:c.66C>T	ENSP00000458001.2:p.Thr22=
ENST00000685118.1:c.*61C>T	ENSP00000509473.1:n.*61C>T
ENST00000685548.1:c.66C>T	ENSP00000510343.1:p.Thr22=
ENST00000685863.1:c.40-3011C>T	ENSP00000509361.1:n.40-3011C>T
ENST00000687293.1:c.66C>T	ENSP00000509928.1:p.Thr22=
ENST00000687975.1:c.66C>T	ENSP00000508690.1:p.Thr22=
ENST00000688154.1:c.66C>T	ENSP00000510637.1:p.Thr22=
ENST00000688389.1:c.66C>T	ENSP00000510491.1:p.Thr22=
ENST00000688637.1:n.147C>T
ENST00000688908.1:c.40-3011C>T	ENSP00000510242.1:n.40-3011C>T
ENST00000689730.1:c.66C>T	ENSP00000510006.1:p.Thr22=
ENST00000689739.1:n.147C>T
ENST00000690610.1:c.66C>T	ENSP00000510473.1:p.Thr22=
ENST00000691021.1:c.*61C>T	ENSP00000510805.1:n.*61C>T
ENST00000691695.1:c.40-3011C>T	ENSP00000509402.1:n.40-3011C>T
ENST00000692691.1:c.66C>T	ENSP00000508808.1:p.Thr22=
ENST00000693064.1:c.*41C>T	ENSP00000510720.1:n.*41C>T
XR_931766.1:n.121C>T
XR_931766.3:n.147C>T