Canonical Allele Identifier: CA393511059

Gene: ETFA

Linked Data

• MyVariant Identifiers: chr15:g.76566808G>A (hg19) ; chr15:g.76274467G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.76274467G>A , CM000677.2:g.76274467G>A	GRCh38
NC_000015.9:g.76566808G>A , CM000677.1:g.76566808G>A	GRCh37
NC_000015.8:g.74353863G>A	NCBI36
NG_007077.2:g.42003C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559386.2:c.761C>T	ENSP00000452777.2:p.Ala254Val
ENST00000560044.6:c.*756C>T	ENSP00000452942.1:n.*756C>T
ENST00000560595.6:c.980C>T	ENSP00000453345.2:p.Ala327Val
ENST00000565910.6:c.761C>T	ENSP00000458001.2:p.Ala254Val
ENST00000685118.1:c.*756C>T	ENSP00000509473.1:n.*756C>T
ENST00000685548.1:c.761C>T	ENSP00000510343.1:p.Ala254Val
ENST00000685863.1:c.545C>T	ENSP00000509361.1:p.Ala182Val
ENST00000687293.1:c.836C>T	ENSP00000509928.1:p.Ala279Val
ENST00000687975.1:c.*637C>T	ENSP00000508690.1:n.*637C>T
ENST00000688154.1:c.761C>T	ENSP00000510637.1:p.Ala254Val
ENST00000688389.1:c.692C>T	ENSP00000510491.1:p.Ala231Val
ENST00000688637.1:n.842C>T
ENST00000688908.1:c.596C>T	ENSP00000510242.1:p.Ala199Val
ENST00000689730.1:c.743C>T	ENSP00000510006.1:p.Ala248Val
ENST00000689739.1:n.773C>T
ENST00000690610.1:c.761C>T	ENSP00000510473.1:p.Ala254Val
ENST00000691021.1:c.*756C>T	ENSP00000510805.1:n.*756C>T
ENST00000691071.1:n.540C>T
ENST00000691695.1:c.614C>T	ENSP00000509402.1:p.Ala205Val
ENST00000692691.1:c.884C>T	ENSP00000508808.1:p.Ala295Val
ENST00000693064.1:c.*736C>T	ENSP00000510720.1:n.*736C>T
ENST00000557943.6:c.761C>T MANE Select	ENSP00000452762.1:p.Ala254Val
ENST00000267950.12:c.*484C>T	ENSP00000267950.8:n.*484C>T
ENST00000433983.6:c.614C>T	ENSP00000399273.2:p.Ala205Val
ENST00000557943.5:c.761C>T	ENSP00000452762.1:p.Ala254Val
ENST00000558803.1:n.113C>T
ENST00000559075.5:n.785C>T
ENST00000559602.5:c.449C>T	ENSP00000452659.1:p.Ala150Val
ENST00000559758.5:n.602C>T
ENST00000559973.5:c.471C>T
ENST00000560044.5:c.*756C>T	ENSP00000452942.1:n.*756C>T
ENST00000560345.5:c.669C>T
ENST00000560595.5:c.692C>T	ENSP00000453345.1:p.Ala231Val
ENST00000560726.5:c.-20C>T	ENSP00000453098.1:n.-20C>T
ENST00000560816.5:n.320C>T
ENST00000560899.5:c.-20C>T	ENSP00000453422.1:n.-20C>T
NM_000126.3:c.761C>T	NP_000117.1:p.Ala254Val
NM_001127716.1:c.614C>T	NP_001121188.1:p.Ala205Val
XR_931766.1:n.816C>T
XR_931766.3:n.842C>T
NM_000126.4:c.761C>T MANE Select	NP_000117.1:p.Ala254Val
NM_001127716.2:c.614C>T	NP_001121188.1:p.Ala205Val