Canonical Allele Identifier: CA7673746

Gene: ETFA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.76286439A>G , CM000677.2:g.76286439A>G	GRCh38
NC_000015.9:g.76578780A>G , CM000677.1:g.76578780A>G	GRCh37
NC_000015.8:g.74365835A>G	NCBI36
NG_007077.2:g.30031T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000126.4:c.494T>C MANE Select	NP_000117.1:p.Val165Ala
ENST00000557943.6:c.494T>C MANE Select	ENSP00000452762.1:p.Val165Ala
NM_000126.3:c.494T>C	NP_000117.1:p.Val165Ala
NM_001127716.1:c.347T>C	NP_001121188.1:p.Val116Ala
NM_001127716.2:c.347T>C	NP_001121188.1:p.Val116Ala
ENST00000267950.12:c.*217T>C	ENSP00000267950.8:n.*217T>C
ENST00000433983.6:c.347T>C	ENSP00000399273.2:p.Val116Ala
ENST00000557943.5:c.494T>C	ENSP00000452762.1:p.Val165Ala
ENST00000559075.5:n.518T>C
ENST00000559386.1:c.494T>C	ENSP00000452777.1:p.Val165Ala
ENST00000559386.2:c.494T>C	ENSP00000452777.2:p.Val165Ala
ENST00000559602.5:c.182T>C	ENSP00000452659.1:p.Val61Ala
ENST00000559758.5:n.335T>C
ENST00000559973.5:c.204T>C
ENST00000560044.5:c.*489T>C	ENSP00000452942.1:n.*489T>C
ENST00000560044.6:c.*489T>C	ENSP00000452942.1:n.*489T>C
ENST00000560309.5:c.*407T>C	ENSP00000453753.1:n.*407T>C
ENST00000560345.5:c.306T>C
ENST00000560595.5:c.494T>C	ENSP00000453345.1:p.Val165Ala
ENST00000560595.6:c.494T>C	ENSP00000453345.2:p.Val165Ala
ENST00000560726.5:c.-287T>C	ENSP00000453098.1:n.-287T>C
ENST00000560816.5:n.53T>C
ENST00000560899.5:c.-287T>C	ENSP00000453422.1:n.-287T>C
ENST00000565910.6:c.494T>C	ENSP00000458001.2:p.Val165Ala
ENST00000685118.1:c.*489T>C	ENSP00000509473.1:n.*489T>C
ENST00000685548.1:c.494T>C	ENSP00000510343.1:p.Val165Ala
ENST00000685863.1:c.347T>C	ENSP00000509361.1:p.Val116Ala
ENST00000687293.1:c.494T>C	ENSP00000509928.1:p.Val165Ala
ENST00000687975.1:c.*370T>C	ENSP00000508690.1:n.*370T>C
ENST00000688154.1:c.494T>C	ENSP00000510637.1:p.Val165Ala
ENST00000688389.1:c.494T>C	ENSP00000510491.1:p.Val165Ala
ENST00000688637.1:n.575T>C
ENST00000688908.1:c.329T>C	ENSP00000510242.1:p.Val110Ala
ENST00000689120.1:n.578T>C
ENST00000689730.1:c.476T>C	ENSP00000510006.1:p.Val159Ala
ENST00000689739.1:n.575T>C
ENST00000690610.1:c.494T>C	ENSP00000510473.1:p.Val165Ala
ENST00000691021.1:c.*489T>C	ENSP00000510805.1:n.*489T>C
ENST00000691071.1:n.273T>C
ENST00000691695.1:c.347T>C	ENSP00000509402.1:p.Val116Ala
ENST00000692691.1:c.494T>C	ENSP00000508808.1:p.Val165Ala
ENST00000693064.1:c.*469T>C	ENSP00000510720.1:n.*469T>C
XR_931766.1:n.549T>C
XR_931766.3:n.575T>C