Canonical Allele Identifier: CA9610859

Gene: ETFB

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.51354242A>G , CM000681.2:g.51354242A>G	GRCh38
NC_000019.9:g.51857496A>G , CM000681.1:g.51857496A>G	GRCh37
NC_000019.8:g.56549308A>G	NCBI36
NG_007115.1:g.17177T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001985.3:c.124T>C MANE Select	NP_001976.1:p.Cys42Arg
ENST00000309244.9:c.124T>C MANE Select	ENSP00000311930.3:p.Cys42Arg
NM_001014763.1:c.397T>C	NP_001014763.1:p.Cys133Arg
NM_001985.2:c.124T>C	NP_001976.1:p.Cys42Arg
ENST00000309244.8:c.124T>C	ENSP00000311930.3:p.Cys42Arg
ENST00000354232.8:c.397T>C	ENSP00000346173.3:p.Cys133Arg
ENST00000593992.1:n.147T>C
ENST00000596253.1:c.124T>C	ENSP00000469628.1:p.Cys42Arg
ENST00000600067.1:c.*50T>C	ENSP00000469452.1:n.*50T>C
XM_024451418.1:c.13T>C	XP_024307186.1:p.Cys5Arg