Canonical Allele Identifier: CA491327964

Gene: ETFA

Linked Data

• MyVariant Identifiers: chr15:g.76578815A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.76286474A>C , CM000677.2:g.76286474A>C	GRCh38
NC_000015.9:g.76578815A>C , CM000677.1:g.76578815A>C	GRCh37
NC_000015.8:g.74365870A>C	NCBI36
NG_007077.2:g.29996T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559386.2:c.459T>G	ENSP00000452777.2:p.Ala153=
ENST00000560044.6:c.*454T>G	ENSP00000452942.1:n.*454T>G
ENST00000560595.6:c.459T>G	ENSP00000453345.2:p.Ala153=
ENST00000565910.6:c.459T>G	ENSP00000458001.2:p.Ala153=
ENST00000685118.1:c.*454T>G	ENSP00000509473.1:n.*454T>G
ENST00000685548.1:c.459T>G	ENSP00000510343.1:p.Ala153=
ENST00000685863.1:c.312T>G	ENSP00000509361.1:p.Ala104=
ENST00000687293.1:c.459T>G	ENSP00000509928.1:p.Ala153=
ENST00000687975.1:c.*335T>G	ENSP00000508690.1:n.*335T>G
ENST00000688154.1:c.459T>G	ENSP00000510637.1:p.Ala153=
ENST00000688389.1:c.459T>G	ENSP00000510491.1:p.Ala153=
ENST00000688637.1:n.540T>G
ENST00000688908.1:c.305-11T>G	ENSP00000510242.1:n.305-11T>G
ENST00000689120.1:n.543T>G
ENST00000689730.1:c.452-11T>G	ENSP00000510006.1:n.452-11T>G
ENST00000689739.1:n.540T>G
ENST00000690610.1:c.459T>G	ENSP00000510473.1:p.Ala153=
ENST00000691021.1:c.*454T>G	ENSP00000510805.1:n.*454T>G
ENST00000691071.1:n.238T>G
ENST00000691695.1:c.312T>G	ENSP00000509402.1:p.Ala104=
ENST00000692691.1:c.459T>G	ENSP00000508808.1:p.Ala153=
ENST00000693064.1:c.*434T>G	ENSP00000510720.1:n.*434T>G
ENST00000557943.6:c.459T>G MANE Select	ENSP00000452762.1:p.Ala153=
ENST00000267950.12:c.*182T>G	ENSP00000267950.8:n.*182T>G
ENST00000433983.6:c.312T>G	ENSP00000399273.2:p.Ala104=
ENST00000557943.5:c.459T>G	ENSP00000452762.1:p.Ala153=
ENST00000559075.5:n.483T>G
ENST00000559386.1:c.459T>G	ENSP00000452777.1:p.Ala153=
ENST00000559602.5:c.147T>G	ENSP00000452659.1:p.Ala49=
ENST00000559758.5:n.300T>G
ENST00000559973.5:c.169T>G
ENST00000560044.5:c.*454T>G	ENSP00000452942.1:n.*454T>G
ENST00000560309.5:c.*372T>G	ENSP00000453753.1:n.*372T>G
ENST00000560345.5:c.271T>G
ENST00000560595.5:c.459T>G	ENSP00000453345.1:p.Ala153=
ENST00000560726.5:c.-322T>G	ENSP00000453098.1:n.-322T>G
ENST00000560816.5:n.18T>G
ENST00000560899.5:c.-322T>G	ENSP00000453422.1:n.-322T>G
NM_000126.3:c.459T>G	NP_000117.1:p.Ala153=
NM_001127716.1:c.312T>G	NP_001121188.1:p.Ala104=
XR_931766.1:n.514T>G
XR_931766.3:n.540T>G
NM_000126.4:c.459T>G MANE Select	NP_000117.1:p.Ala153=
NM_001127716.2:c.312T>G	NP_001121188.1:p.Ala104=