Canonical Allele Identifier: CA393516072

Gene: ETFA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.76231400T>C , CM000677.2:g.76231400T>C	GRCh38
NC_000015.9:g.76523741T>C , CM000677.1:g.76523741T>C	GRCh37
NC_000015.8:g.74310796T>C	NCBI36
NG_007077.2:g.85070A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000126.4:c.817-2A>G MANE Select	NP_000117.1:n.817-2A>G
ENST00000557943.6:c.817-2A>G MANE Select	ENSP00000452762.1:n.817-2A>G
NM_000126.3:c.817-2A>G	NP_000117.1:n.817-2A>G
NM_001127716.1:c.670-2A>G	NP_001121188.1:n.670-2A>G
NM_001127716.2:c.670-2A>G	NP_001121188.1:n.670-2A>G
ENST00000267950.12:c.*540-2A>G	ENSP00000267950.8:n.*540-2A>G
ENST00000433983.6:c.670-2A>G	ENSP00000399273.2:n.670-2A>G
ENST00000557943.5:c.817-2A>G	ENSP00000452762.1:n.817-2A>G
ENST00000559075.5:n.841-2A>G
ENST00000559386.2:c.*9-2A>G	ENSP00000452777.2:n.*9-2A>G
ENST00000559602.5:c.505-2A>G	ENSP00000452659.1:n.505-2A>G
ENST00000559973.5:c.527-2A>G
ENST00000560044.5:c.*812-2A>G	ENSP00000452942.1:n.*812-2A>G
ENST00000560044.6:c.*812-2A>G	ENSP00000452942.1:n.*812-2A>G
ENST00000560595.5:c.748-2A>G	ENSP00000453345.1:n.748-2A>G
ENST00000560595.6:c.1036-2A>G	ENSP00000453345.2:n.1036-2A>G
ENST00000560726.5:c.37-2A>G	ENSP00000453098.1:n.37-2A>G
ENST00000560899.5:c.37-2A>G	ENSP00000453422.1:n.37-2A>G
ENST00000565910.6:c.817-2A>G	ENSP00000458001.2:n.817-2A>G
ENST00000685118.1:c.*812-2A>G	ENSP00000509473.1:n.*812-2A>G
ENST00000685548.1:c.817-2A>G	ENSP00000510343.1:n.817-2A>G
ENST00000685863.1:c.601-2A>G	ENSP00000509361.1:n.601-2A>G
ENST00000687293.1:c.892-2A>G	ENSP00000509928.1:n.892-2A>G
ENST00000687975.1:c.*693-2A>G	ENSP00000508690.1:n.*693-2A>G
ENST00000688154.1:c.817-2A>G	ENSP00000510637.1:n.817-2A>G
ENST00000688389.1:c.748-2A>G	ENSP00000510491.1:n.748-2A>G
ENST00000688637.1:n.898-2A>G
ENST00000688908.1:c.652-2A>G	ENSP00000510242.1:n.652-2A>G
ENST00000689730.1:c.799-2A>G	ENSP00000510006.1:n.799-2A>G
ENST00000689739.1:n.829-2A>G
ENST00000690610.1:c.817-2A>G	ENSP00000510473.1:n.817-2A>G
ENST00000691021.1:c.*812-2A>G	ENSP00000510805.1:n.*812-2A>G
ENST00000691071.1:n.596-2A>G
ENST00000691695.1:c.*9-2A>G	ENSP00000509402.1:n.*9-2A>G
ENST00000692691.1:c.940-2A>G	ENSP00000508808.1:n.940-2A>G
ENST00000693064.1:c.*792-2A>G	ENSP00000510720.1:n.*792-2A>G
XR_931766.1:n.872-2A>G
XR_931766.3:n.898-2A>G