Canonical Allele Identifier: CA393513242

Gene: ETFA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.76285704C>T , CM000677.2:g.76285704C>T	GRCh38
NC_000015.9:g.76578045C>T , CM000677.1:g.76578045C>T	GRCh37
NC_000015.8:g.74365100C>T	NCBI36
NG_007077.2:g.30766G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000126.4:c.597G>A MANE Select	NP_000117.1:p.Trp199Ter
ENST00000557943.6:c.597G>A MANE Select	ENSP00000452762.1:p.Trp199Ter
NM_000126.3:c.597G>A	NP_000117.1:p.Trp199Ter
NM_001127716.1:c.450G>A	NP_001121188.1:p.Trp150Ter
NM_001127716.2:c.450G>A	NP_001121188.1:p.Trp150Ter
ENST00000267950.12:c.*320G>A	ENSP00000267950.8:n.*320G>A
ENST00000433983.6:c.450G>A	ENSP00000399273.2:p.Trp150Ter
ENST00000557943.5:c.597G>A	ENSP00000452762.1:p.Trp199Ter
ENST00000559075.5:n.621G>A
ENST00000559386.1:c.597G>A	ENSP00000452777.1:p.Trp199Ter
ENST00000559386.2:c.597G>A	ENSP00000452777.2:p.Trp199Ter
ENST00000559602.5:c.285G>A	ENSP00000452659.1:p.Trp95Ter
ENST00000559758.5:n.438G>A
ENST00000559973.5:c.307G>A
ENST00000560044.5:c.*592G>A	ENSP00000452942.1:n.*592G>A
ENST00000560044.6:c.*592G>A	ENSP00000452942.1:n.*592G>A
ENST00000560345.5:c.409G>A
ENST00000560595.5:c.597G>A	ENSP00000453345.1:p.Trp199Ter
ENST00000560595.6:c.597G>A	ENSP00000453345.2:p.Trp199Ter
ENST00000560726.5:c.-184G>A	ENSP00000453098.1:n.-184G>A
ENST00000560816.5:n.156G>A
ENST00000560899.5:c.-184G>A	ENSP00000453422.1:n.-184G>A
ENST00000565910.6:c.597G>A	ENSP00000458001.2:p.Trp199Ter
ENST00000685118.1:c.*592G>A	ENSP00000509473.1:n.*592G>A
ENST00000685548.1:c.597G>A	ENSP00000510343.1:p.Trp199Ter
ENST00000685863.1:c.450G>A	ENSP00000509361.1:p.Trp150Ter
ENST00000687293.1:c.597G>A	ENSP00000509928.1:p.Trp199Ter
ENST00000687975.1:c.*473G>A	ENSP00000508690.1:n.*473G>A
ENST00000688154.1:c.597G>A	ENSP00000510637.1:p.Trp199Ter
ENST00000688389.1:c.597G>A	ENSP00000510491.1:p.Trp199Ter
ENST00000688637.1:n.678G>A
ENST00000688908.1:c.432G>A	ENSP00000510242.1:p.Trp144Ter
ENST00000689120.1:n.681G>A
ENST00000689730.1:c.579G>A	ENSP00000510006.1:p.Trp193Ter
ENST00000689739.1:n.678G>A
ENST00000690610.1:c.597G>A	ENSP00000510473.1:p.Trp199Ter
ENST00000691021.1:c.*592G>A	ENSP00000510805.1:n.*592G>A
ENST00000691071.1:n.376G>A
ENST00000691695.1:c.450G>A	ENSP00000509402.1:p.Trp150Ter
ENST00000692691.1:c.597G>A	ENSP00000508808.1:p.Trp199Ter
ENST00000693064.1:c.*572G>A	ENSP00000510720.1:n.*572G>A
XR_931766.1:n.652G>A
XR_931766.3:n.678G>A