Canonical Allele Identifier: CA407083102

Gene: ETFB

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.51354188C>A , CM000681.2:g.51354188C>A	GRCh38
NC_000019.9:g.51857442C>A , CM000681.1:g.51857442C>A	GRCh37
NC_000019.8:g.56549254C>A	NCBI36
NG_007115.1:g.17231G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001985.3:c.178G>T MANE Select	NP_001976.1:p.Glu60Ter
ENST00000309244.9:c.178G>T MANE Select	ENSP00000311930.3:p.Glu60Ter
NM_001014763.1:c.451G>T	NP_001014763.1:p.Glu151Ter
NM_001985.2:c.178G>T	NP_001976.1:p.Glu60Ter
ENST00000309244.8:c.178G>T	ENSP00000311930.3:p.Glu60Ter
ENST00000354232.8:c.451G>T	ENSP00000346173.3:p.Glu151Ter
ENST00000593992.1:n.201G>T
ENST00000596253.1:c.178G>T	ENSP00000469628.1:p.Glu60Ter
ENST00000600067.1:c.*104G>T	ENSP00000469452.1:n.*104G>T
XM_024451418.1:c.67G>T	XP_024307186.1:p.Glu23Ter