Canonical Allele Identifier: CA393511050

Gene: ETFA

Linked Data

• MyVariant Identifiers: chr15:g.76566803A>C (hg19) ; chr15:g.76274462A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.76274462A>C , CM000677.2:g.76274462A>C	GRCh38
NC_000015.9:g.76566803A>C , CM000677.1:g.76566803A>C	GRCh37
NC_000015.8:g.74353858A>C	NCBI36
NG_007077.2:g.42008T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559386.2:c.766T>G	ENSP00000452777.2:p.Phe256Val
ENST00000560044.6:c.*761T>G	ENSP00000452942.1:n.*761T>G
ENST00000560595.6:c.985T>G	ENSP00000453345.2:p.Phe329Val
ENST00000565910.6:c.766T>G	ENSP00000458001.2:p.Phe256Val
ENST00000685118.1:c.*761T>G	ENSP00000509473.1:n.*761T>G
ENST00000685548.1:c.766T>G	ENSP00000510343.1:p.Phe256Val
ENST00000685863.1:c.550T>G	ENSP00000509361.1:p.Phe184Val
ENST00000687293.1:c.841T>G	ENSP00000509928.1:p.Phe281Val
ENST00000687975.1:c.*642T>G	ENSP00000508690.1:n.*642T>G
ENST00000688154.1:c.766T>G	ENSP00000510637.1:p.Phe256Val
ENST00000688389.1:c.697T>G	ENSP00000510491.1:p.Phe233Val
ENST00000688637.1:n.847T>G
ENST00000688908.1:c.601T>G	ENSP00000510242.1:p.Phe201Val
ENST00000689730.1:c.748T>G	ENSP00000510006.1:p.Phe250Val
ENST00000689739.1:n.778T>G
ENST00000690610.1:c.766T>G	ENSP00000510473.1:p.Phe256Val
ENST00000691021.1:c.*761T>G	ENSP00000510805.1:n.*761T>G
ENST00000691071.1:n.545T>G
ENST00000691695.1:c.619T>G	ENSP00000509402.1:p.Phe207Val
ENST00000692691.1:c.889T>G	ENSP00000508808.1:p.Phe297Val
ENST00000693064.1:c.*741T>G	ENSP00000510720.1:n.*741T>G
ENST00000557943.6:c.766T>G MANE Select	ENSP00000452762.1:p.Phe256Val
ENST00000267950.12:c.*489T>G	ENSP00000267950.8:n.*489T>G
ENST00000433983.6:c.619T>G	ENSP00000399273.2:p.Phe207Val
ENST00000557943.5:c.766T>G	ENSP00000452762.1:p.Phe256Val
ENST00000558803.1:n.118T>G
ENST00000559075.5:n.790T>G
ENST00000559602.5:c.454T>G	ENSP00000452659.1:p.Phe152Val
ENST00000559758.5:n.607T>G
ENST00000559973.5:c.476T>G
ENST00000560044.5:c.*761T>G	ENSP00000452942.1:n.*761T>G
ENST00000560345.5:c.674T>G
ENST00000560595.5:c.697T>G	ENSP00000453345.1:p.Phe233Val
ENST00000560726.5:c.-15T>G	ENSP00000453098.1:n.-15T>G
ENST00000560816.5:n.325T>G
ENST00000560899.5:c.-15T>G	ENSP00000453422.1:n.-15T>G
NM_000126.3:c.766T>G	NP_000117.1:p.Phe256Val
NM_001127716.1:c.619T>G	NP_001121188.1:p.Phe207Val
XR_931766.1:n.821T>G
XR_931766.3:n.847T>G
NM_000126.4:c.766T>G MANE Select	NP_000117.1:p.Phe256Val
NM_001127716.2:c.619T>G	NP_001121188.1:p.Phe207Val