Canonical Allele Identifier: CA2629647724

Gene: ETFA

Linked Data

• gnomAD v4: 15-76274362-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.76274362G>A , CM000677.2:g.76274362G>A	GRCh38
NC_000015.9:g.76566703G>A , CM000677.1:g.76566703G>A	GRCh37
NC_000015.8:g.74353758G>A	NCBI36
NG_007077.2:g.42108C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559386.2:c.816+50C>T	ENSP00000452777.2:n.816+50C>T
ENST00000560044.6:c.*811+50C>T	ENSP00000452942.1:n.*811+50C>T
ENST00000560595.6:c.1035+50C>T	ENSP00000453345.2:n.1035+50C>T
ENST00000565910.6:c.816+50C>T	ENSP00000458001.2:n.816+50C>T
ENST00000685118.1:c.*811+50C>T	ENSP00000509473.1:n.*811+50C>T
ENST00000685548.1:c.816+50C>T	ENSP00000510343.1:n.816+50C>T
ENST00000685863.1:c.600+50C>T	ENSP00000509361.1:n.600+50C>T
ENST00000687293.1:c.891+50C>T	ENSP00000509928.1:n.891+50C>T
ENST00000687975.1:c.*692+50C>T	ENSP00000508690.1:n.*692+50C>T
ENST00000688154.1:c.816+50C>T	ENSP00000510637.1:n.816+50C>T
ENST00000688389.1:c.747+50C>T	ENSP00000510491.1:n.747+50C>T
ENST00000688637.1:n.897+50C>T
ENST00000688908.1:c.651+50C>T	ENSP00000510242.1:n.651+50C>T
ENST00000689730.1:c.798+50C>T	ENSP00000510006.1:n.798+50C>T
ENST00000689739.1:n.828+50C>T
ENST00000690610.1:c.816+50C>T	ENSP00000510473.1:n.816+50C>T
ENST00000691021.1:c.*811+50C>T	ENSP00000510805.1:n.*811+50C>T
ENST00000691071.1:n.595+50C>T
ENST00000691695.1:c.669+50C>T	ENSP00000509402.1:n.669+50C>T
ENST00000692691.1:c.939+50C>T	ENSP00000508808.1:n.939+50C>T
ENST00000693064.1:c.*791+50C>T	ENSP00000510720.1:n.*791+50C>T
ENST00000557943.6:c.816+50C>T MANE Select	ENSP00000452762.1:n.816+50C>T
ENST00000267950.12:c.*539+50C>T	ENSP00000267950.8:n.*539+50C>T
ENST00000433983.6:c.669+50C>T	ENSP00000399273.2:n.669+50C>T
ENST00000557943.5:c.816+50C>T	ENSP00000452762.1:n.816+50C>T
ENST00000558803.1:n.218C>T
ENST00000559075.5:n.840+50C>T
ENST00000559602.5:c.504+50C>T	ENSP00000452659.1:n.504+50C>T
ENST00000559758.5:n.707C>T
ENST00000559973.5:c.526+50C>T
ENST00000560044.5:c.*811+50C>T	ENSP00000452942.1:n.*811+50C>T
ENST00000560595.5:c.747+50C>T	ENSP00000453345.1:n.747+50C>T
ENST00000560726.5:c.36+50C>T	ENSP00000453098.1:n.36+50C>T
ENST00000560816.5:n.375+50C>T
ENST00000560899.5:c.36+50C>T	ENSP00000453422.1:n.36+50C>T
NM_000126.3:c.816+50C>T	NP_000117.1:n.816+50C>T
NM_001127716.1:c.669+50C>T	NP_001121188.1:n.669+50C>T
XR_931766.1:n.871+50C>T
XR_931766.3:n.897+50C>T
NM_000126.4:c.816+50C>T MANE Select	NP_000117.1:n.816+50C>T
NM_001127716.2:c.669+50C>T	NP_001121188.1:n.669+50C>T