Canonical Allele Identifier: CA393516642

Gene: ETFA

Linked Data

• MyVariant Identifiers: chr15:g.76584777C>G (hg19) ; chr15:g.76292436C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.76292436C>G , CM000677.2:g.76292436C>G	GRCh38
NC_000015.9:g.76584777C>G , CM000677.1:g.76584777C>G	GRCh37
NC_000015.8:g.74371832C>G	NCBI36
NG_007077.2:g.24034G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559386.2:c.346G>C	ENSP00000452777.2:p.Gly116Arg
ENST00000560044.6:c.*341G>C	ENSP00000452942.1:n.*341G>C
ENST00000560595.6:c.346G>C	ENSP00000453345.2:p.Gly116Arg
ENST00000565910.6:c.346G>C	ENSP00000458001.2:p.Gly116Arg
ENST00000685118.1:c.*341G>C	ENSP00000509473.1:n.*341G>C
ENST00000685548.1:c.346G>C	ENSP00000510343.1:p.Gly116Arg
ENST00000685863.1:c.199G>C	ENSP00000509361.1:p.Gly67Arg
ENST00000687293.1:c.346G>C	ENSP00000509928.1:p.Gly116Arg
ENST00000687975.1:c.*222G>C	ENSP00000508690.1:n.*222G>C
ENST00000688154.1:c.346G>C	ENSP00000510637.1:p.Gly116Arg
ENST00000688389.1:c.346G>C	ENSP00000510491.1:p.Gly116Arg
ENST00000688637.1:n.427G>C
ENST00000688908.1:c.199G>C	ENSP00000510242.1:p.Gly67Arg
ENST00000689730.1:c.346G>C	ENSP00000510006.1:p.Gly116Arg
ENST00000689739.1:n.427G>C
ENST00000690610.1:c.346G>C	ENSP00000510473.1:p.Gly116Arg
ENST00000691021.1:c.*341G>C	ENSP00000510805.1:n.*341G>C
ENST00000691071.1:n.125G>C
ENST00000691695.1:c.199G>C	ENSP00000509402.1:p.Gly67Arg
ENST00000692691.1:c.346G>C	ENSP00000508808.1:p.Gly116Arg
ENST00000693064.1:c.*321G>C	ENSP00000510720.1:n.*321G>C
ENST00000557943.6:c.346G>C MANE Select	ENSP00000452762.1:p.Gly116Arg
ENST00000267950.12:c.*69G>C	ENSP00000267950.8:n.*69G>C
ENST00000433983.6:c.199G>C	ENSP00000399273.2:p.Gly67Arg
ENST00000557943.5:c.346G>C	ENSP00000452762.1:p.Gly116Arg
ENST00000559075.5:n.370G>C
ENST00000559386.1:c.346G>C	ENSP00000452777.1:p.Gly116Arg
ENST00000559602.5:c.40-4491G>C	ENSP00000452659.1:n.40-4491G>C
ENST00000559758.5:n.187G>C
ENST00000559973.5:c.56G>C
ENST00000560044.5:c.*341G>C	ENSP00000452942.1:n.*341G>C
ENST00000560309.5:c.*259G>C	ENSP00000453753.1:n.*259G>C
ENST00000560345.5:c.158G>C
ENST00000560595.5:c.346G>C	ENSP00000453345.1:p.Gly116Arg
ENST00000560726.5:c.-435G>C	ENSP00000453098.1:n.-435G>C
ENST00000560899.5:c.-435G>C	ENSP00000453422.1:n.-435G>C
ENST00000561092.1:n.278G>C
NM_000126.3:c.346G>C	NP_000117.1:p.Gly116Arg
NM_001127716.1:c.199G>C	NP_001121188.1:p.Gly67Arg
XR_931766.1:n.401G>C
XR_931766.3:n.427G>C
NM_000126.4:c.346G>C MANE Select	NP_000117.1:p.Gly116Arg
NM_001127716.2:c.199G>C	NP_001121188.1:p.Gly67Arg