Canonical Allele Identifier: CA393515470
Community Standard Title: NM_000126.4(ETFA):c.352-1G>A
Gene: ETFA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.76287946C>T , CM000677.2:g.76287946C>T GRCh38
NC_000015.9:g.76580287C>T , CM000677.1:g.76580287C>T GRCh37
NC_000015.8:g.74367342C>T NCBI36
NG_007077.2:g.28524G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000126.4:c.352-1G>A MANE Select NP_000117.1:n.352-1G>A
ENST00000557943.6:c.352-1G>A MANE Select ENSP00000452762.1:n.352-1G>A
NM_000126.3:c.352-1G>A NP_000117.1:n.352-1G>A
NM_001127716.1:c.205-1G>A NP_001121188.1:n.205-1G>A
NM_001127716.2:c.205-1G>A NP_001121188.1:n.205-1G>A
ENST00000267950.12:c.*75-1G>A ENSP00000267950.8:n.*75-1G>A
ENST00000433983.6:c.205-1G>A ENSP00000399273.2:n.205-1G>A
ENST00000557943.5:c.352-1G>A ENSP00000452762.1:n.352-1G>A
ENST00000559075.5:n.376-1G>A
ENST00000559386.1:c.352-1G>A ENSP00000452777.1:n.352-1G>A
ENST00000559386.2:c.352-1G>A ENSP00000452777.2:n.352-1G>A
ENST00000559602.5:c.40-1G>A ENSP00000452659.1:n.40-1G>A
ENST00000559758.5:n.193-1G>A
ENST00000559973.5:c.62-1G>A
ENST00000560044.5:c.*347-1G>A ENSP00000452942.1:n.*347-1G>A
ENST00000560044.6:c.*347-1G>A ENSP00000452942.1:n.*347-1G>A
ENST00000560309.5:c.*265-1G>A ENSP00000453753.1:n.*265-1G>A
ENST00000560345.5:c.164-1G>A
ENST00000560595.5:c.352-1G>A ENSP00000453345.1:n.352-1G>A
ENST00000560595.6:c.352-1G>A ENSP00000453345.2:n.352-1G>A
ENST00000560726.5:c.-429-1G>A ENSP00000453098.1:n.-429-1G>A
ENST00000560899.5:c.-429-1G>A ENSP00000453422.1:n.-429-1G>A
ENST00000561092.1:n.284-1G>A
ENST00000565910.6:c.352-1G>A ENSP00000458001.2:n.352-1G>A
ENST00000685118.1:c.*347-1G>A ENSP00000509473.1:n.*347-1G>A
ENST00000685548.1:c.352-1G>A ENSP00000510343.1:n.352-1G>A
ENST00000685863.1:c.205-1G>A ENSP00000509361.1:n.205-1G>A
ENST00000687293.1:c.352-1G>A ENSP00000509928.1:n.352-1G>A
ENST00000687975.1:c.*228-1G>A ENSP00000508690.1:n.*228-1G>A
ENST00000688154.1:c.352-1G>A ENSP00000510637.1:n.352-1G>A
ENST00000688389.1:c.352-1G>A ENSP00000510491.1:n.352-1G>A
ENST00000688637.1:n.433-1G>A
ENST00000688908.1:c.205-1G>A ENSP00000510242.1:n.205-1G>A
ENST00000689730.1:c.352-1G>A ENSP00000510006.1:n.352-1G>A
ENST00000689739.1:n.433-1G>A
ENST00000690610.1:c.352-1G>A ENSP00000510473.1:n.352-1G>A
ENST00000691021.1:c.*347-1G>A ENSP00000510805.1:n.*347-1G>A
ENST00000691071.1:n.131-1G>A
ENST00000691695.1:c.205-1G>A ENSP00000509402.1:n.205-1G>A
ENST00000692691.1:c.352-1G>A ENSP00000508808.1:n.352-1G>A
ENST00000693064.1:c.*327-1G>A ENSP00000510720.1:n.*327-1G>A
XR_931766.1:n.407-1G>A
XR_931766.3:n.433-1G>A