Canonical Allele Identifier: CA407082001

Gene: ETFB

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.51350385C>A , CM000681.2:g.51350385C>A	GRCh38
NC_000019.9:g.51853639C>A , CM000681.1:g.51853639C>A	GRCh37
NC_000019.8:g.56545451C>A	NCBI36
NG_007115.1:g.21034G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001985.3:c.382G>T MANE Select	NP_001976.1:p.Asp128Tyr
ENST00000309244.9:c.382G>T MANE Select	ENSP00000311930.3:p.Asp128Tyr
NM_001014763.1:c.655G>T	NP_001014763.1:p.Asp219Tyr
NM_001985.2:c.382G>T	NP_001976.1:p.Asp128Tyr
ENST00000309244.8:c.382G>T	ENSP00000311930.3:p.Asp128Tyr
ENST00000354232.8:c.655G>T	ENSP00000346173.3:p.Asp219Tyr
ENST00000593992.1:n.405G>T
ENST00000596253.1:c.223G>T	ENSP00000469628.1:p.Asp75Tyr
ENST00000600067.1:c.*308G>T	ENSP00000469452.1:n.*308G>T
XM_024451418.1:c.271G>T	XP_024307186.1:p.Asp91Tyr