Canonical Allele Identifier: CA9610806

Gene: ETFB

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.51353233G>A , CM000681.2:g.51353233G>A	GRCh38
NC_000019.9:g.51856487G>A , CM000681.1:g.51856487G>A	GRCh37
NC_000019.8:g.56548299G>A	NCBI36
NG_007115.1:g.18186C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001985.3:c.274C>T MANE Select	NP_001976.1:p.Pro92Ser
ENST00000309244.9:c.274C>T MANE Select	ENSP00000311930.3:p.Pro92Ser
NM_001014763.1:c.547C>T	NP_001014763.1:p.Pro183Ser
NM_001985.2:c.274C>T	NP_001976.1:p.Pro92Ser
ENST00000309244.8:c.274C>T	ENSP00000311930.3:p.Pro92Ser
ENST00000354232.8:c.547C>T	ENSP00000346173.3:p.Pro183Ser
ENST00000593992.1:n.297C>T
ENST00000596253.1:c.216+917C>T	ENSP00000469628.1:n.216+917C>T
ENST00000600067.1:c.*200C>T	ENSP00000469452.1:n.*200C>T
XM_024451418.1:c.163C>T	XP_024307186.1:p.Pro55Ser