Canonical Allele Identifier: CA407083166

Gene: ETFB

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.51354203T>A , CM000681.2:g.51354203T>A	GRCh38
NC_000019.9:g.51857457T>A , CM000681.1:g.51857457T>A	GRCh37
NC_000019.8:g.56549269T>A	NCBI36
NG_007115.1:g.17216A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001985.3:c.163A>T MANE Select	NP_001976.1:p.Lys55Ter
ENST00000309244.9:c.163A>T MANE Select	ENSP00000311930.3:p.Lys55Ter
NM_001014763.1:c.436A>T	NP_001014763.1:p.Lys146Ter
NM_001985.2:c.163A>T	NP_001976.1:p.Lys55Ter
ENST00000309244.8:c.163A>T	ENSP00000311930.3:p.Lys55Ter
ENST00000354232.8:c.436A>T	ENSP00000346173.3:p.Lys146Ter
ENST00000593992.1:n.186A>T
ENST00000596253.1:c.163A>T	ENSP00000469628.1:p.Lys55Ter
ENST00000600067.1:c.*89A>T	ENSP00000469452.1:n.*89A>T
XM_024451418.1:c.52A>T	XP_024307186.1:p.Lys18Ter