Canonical Allele Identifier: CA312500

Gene: ETFB

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.51345270C>T , CM000681.2:g.51345270C>T	GRCh38
NC_000019.9:g.51848524C>T , CM000681.1:g.51848524C>T	GRCh37
NC_000019.8:g.56540336C>T	NCBI36
NG_007115.1:g.26149G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001985.3:c.709G>A MANE Select	NP_001976.1:p.Val237Ile
ENST00000309244.9:c.709G>A MANE Select	ENSP00000311930.3:p.Val237Ile
NM_001014763.1:c.982G>A	NP_001014763.1:p.Val328Ile
NM_001985.2:c.709G>A	NP_001976.1:p.Val237Ile
ENST00000309244.8:c.709G>A	ENSP00000311930.3:p.Val237Ile
ENST00000354232.8:c.982G>A	ENSP00000346173.3:p.Val328Ile
XM_024451418.1:c.598G>A	XP_024307186.1:p.Val200Ile