Canonical Allele Identifier: CA9610729

Gene: ETFB

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.51346998C>G , CM000681.2:g.51346998C>G	GRCh38
NC_000019.9:g.51850252C>G , CM000681.1:g.51850252C>G	GRCh37
NC_000019.8:g.56542064C>G	NCBI36
NG_007115.1:g.24421G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001985.3:c.499G>C MANE Select	NP_001976.1:p.Asp167His
ENST00000309244.9:c.499G>C MANE Select	ENSP00000311930.3:p.Asp167His
NM_001014763.1:c.772G>C	NP_001014763.1:p.Asp258His
NM_001985.2:c.499G>C	NP_001976.1:p.Asp167His
ENST00000309244.8:c.499G>C	ENSP00000311930.3:p.Asp167His
ENST00000354232.8:c.772G>C	ENSP00000346173.3:p.Asp258His
ENST00000594361.1:n.1533G>C
ENST00000596253.1:c.340G>C	ENSP00000469628.1:p.Asp114His
XM_024451418.1:c.388G>C	XP_024307186.1:p.Asp130His