Canonical Allele Identifier: CA273699474

Gene: ETFA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.76292645T>G , CM000677.2:g.76292645T>G	GRCh38
NC_000015.9:g.76584986T>G , CM000677.1:g.76584986T>G	GRCh37
NC_000015.8:g.74372041T>G	NCBI36
NG_007077.2:g.23825A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000126.4:c.242A>C MANE Select	NP_000117.1:p.His81Pro
ENST00000557943.6:c.242A>C MANE Select	ENSP00000452762.1:p.His81Pro
NM_000126.3:c.242A>C	NP_000117.1:p.His81Pro
NM_001127716.1:c.95A>C	NP_001121188.1:p.His32Pro
NM_001127716.2:c.95A>C	NP_001121188.1:p.His32Pro
ENST00000267950.12:c.187-132A>C	ENSP00000267950.8:n.187-132A>C
ENST00000433983.6:c.95A>C	ENSP00000399273.2:p.His32Pro
ENST00000557943.5:c.242A>C	ENSP00000452762.1:p.His81Pro
ENST00000559075.5:n.266A>C
ENST00000559386.1:c.242A>C	ENSP00000452777.1:p.His81Pro
ENST00000559386.2:c.242A>C	ENSP00000452777.2:p.His81Pro
ENST00000559602.5:c.40-4700A>C	ENSP00000452659.1:n.40-4700A>C
ENST00000560044.5:c.*237A>C	ENSP00000452942.1:n.*237A>C
ENST00000560044.6:c.*237A>C	ENSP00000452942.1:n.*237A>C
ENST00000560309.5:c.*182-132A>C	ENSP00000453753.1:n.*182-132A>C
ENST00000560345.5:c.54A>C
ENST00000560595.5:c.242A>C	ENSP00000453345.1:p.His81Pro
ENST00000560595.6:c.242A>C	ENSP00000453345.2:p.His81Pro
ENST00000560726.5:c.-512-132A>C	ENSP00000453098.1:n.-512-132A>C
ENST00000560899.5:c.-512-132A>C	ENSP00000453422.1:n.-512-132A>C
ENST00000561092.1:n.201-132A>C
ENST00000565910.6:c.242A>C	ENSP00000458001.2:p.His81Pro
ENST00000685118.1:c.*237A>C	ENSP00000509473.1:n.*237A>C
ENST00000685548.1:c.242A>C	ENSP00000510343.1:p.His81Pro
ENST00000685863.1:c.95A>C	ENSP00000509361.1:p.His32Pro
ENST00000687293.1:c.242A>C	ENSP00000509928.1:p.His81Pro
ENST00000687975.1:c.*118A>C	ENSP00000508690.1:n.*118A>C
ENST00000688154.1:c.242A>C	ENSP00000510637.1:p.His81Pro
ENST00000688389.1:c.242A>C	ENSP00000510491.1:p.His81Pro
ENST00000688637.1:n.323A>C
ENST00000688908.1:c.95A>C	ENSP00000510242.1:p.His32Pro
ENST00000689730.1:c.242A>C	ENSP00000510006.1:p.His81Pro
ENST00000689739.1:n.323A>C
ENST00000690610.1:c.242A>C	ENSP00000510473.1:p.His81Pro
ENST00000691021.1:c.*237A>C	ENSP00000510805.1:n.*237A>C
ENST00000691071.1:n.48-132A>C
ENST00000691695.1:c.95A>C	ENSP00000509402.1:p.His32Pro
ENST00000692691.1:c.242A>C	ENSP00000508808.1:p.His81Pro
ENST00000693064.1:c.*217A>C	ENSP00000510720.1:n.*217A>C
XR_931766.1:n.297A>C
XR_931766.3:n.323A>C