Canonical Allele Identifier: CA2188518136

Gene: ETFA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.76274412T= , CM000677.2:g.76274412T=	GRCh38
NC_000015.9:g.76566753T= , CM000677.1:g.76566753T=	GRCh37
NC_000015.8:g.74353808T=	NCBI36
NG_007077.2:g.42058A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559386.2:c.816A=	ENSP00000452777.2:p.Pro272=
ENST00000560044.6:c.*811A=	ENSP00000452942.1:n.*811A=
ENST00000560595.6:c.1035A=	ENSP00000453345.2:p.Pro345=
ENST00000565910.6:c.816A=	ENSP00000458001.2:p.Pro272=
ENST00000685118.1:c.*811A=	ENSP00000509473.1:n.*811A=
ENST00000685548.1:c.816A=	ENSP00000510343.1:p.Pro272=
ENST00000685863.1:c.600A=	ENSP00000509361.1:p.Pro200=
ENST00000687293.1:c.891A=	ENSP00000509928.1:p.Pro297=
ENST00000687975.1:c.*692A=	ENSP00000508690.1:n.*692A=
ENST00000688154.1:c.816A=	ENSP00000510637.1:p.Pro272=
ENST00000688389.1:c.747A=	ENSP00000510491.1:p.Pro249=
ENST00000688637.1:n.897A=
ENST00000688908.1:c.651A=	ENSP00000510242.1:p.Pro217=
ENST00000689730.1:c.798A=	ENSP00000510006.1:p.Pro266=
ENST00000689739.1:n.828A=
ENST00000690610.1:c.816A=	ENSP00000510473.1:p.Pro272=
ENST00000691021.1:c.*811A=	ENSP00000510805.1:n.*811A=
ENST00000691071.1:n.595A=
ENST00000691695.1:c.669A=	ENSP00000509402.1:p.Pro223=
ENST00000692691.1:c.939A=	ENSP00000508808.1:p.Pro313=
ENST00000693064.1:c.*791A=	ENSP00000510720.1:n.*791A=
ENST00000557943.6:c.816A= MANE Select	ENSP00000452762.1:p.Pro272=
ENST00000267950.12:c.*539A=	ENSP00000267950.8:n.*539A=
ENST00000433983.6:c.669A=	ENSP00000399273.2:p.Pro223=
ENST00000557943.5:c.816A=	ENSP00000452762.1:p.Pro272=
ENST00000558803.1:n.168A=
ENST00000559075.5:n.840A=
ENST00000559602.5:c.504A=	ENSP00000452659.1:p.Pro168=
ENST00000559758.5:n.657A=
ENST00000559973.5:c.526A=
ENST00000560044.5:c.*811A=	ENSP00000452942.1:n.*811A=
ENST00000560595.5:c.747A=	ENSP00000453345.1:p.Pro249=
ENST00000560726.5:c.36A=	ENSP00000453098.1:p.Pro12=
ENST00000560816.5:n.375A=
ENST00000560899.5:c.36A=	ENSP00000453422.1:p.Pro12=
NM_000126.3:c.816A=	NP_000117.1:p.Pro272=
NM_001127716.1:c.669A=	NP_001121188.1:p.Pro223=
XR_931766.1:n.871A=
XR_931766.3:n.897A=
NM_000126.4:c.816A= MANE Select	NP_000117.1:p.Pro272=
NM_001127716.2:c.669A=	NP_001121188.1:p.Pro223=