Canonical Allele Identifier: CA9610843

Gene: ETFB

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.51354192C>T , CM000681.2:g.51354192C>T	GRCh38
NC_000019.9:g.51857446C>T , CM000681.1:g.51857446C>T	GRCh37
NC_000019.8:g.56549258C>T	NCBI36
NG_007115.1:g.17227G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001985.3:c.174G>A MANE Select	NP_001976.1:p.Val58=
ENST00000309244.9:c.174G>A MANE Select	ENSP00000311930.3:p.Val58=
NM_001014763.1:c.447G>A	NP_001014763.1:p.Val149=
NM_001985.2:c.174G>A	NP_001976.1:p.Val58=
ENST00000309244.8:c.174G>A	ENSP00000311930.3:p.Val58=
ENST00000354232.8:c.447G>A	ENSP00000346173.3:p.Val149=
ENST00000593992.1:n.197G>A
ENST00000596253.1:c.174G>A	ENSP00000469628.1:p.Val58=
ENST00000600067.1:c.*100G>A	ENSP00000469452.1:n.*100G>A
XM_024451418.1:c.63G>A	XP_024307186.1:p.Val21=