Canonical Allele Identifier: CA9610876
Community Standard Title: NM_001985.3(ETFB):c.61C>T (p.Arg21Ter)
Gene: ETFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.51354305G>A , CM000681.2:g.51354305G>A GRCh38
NC_000019.9:g.51857559G>A , CM000681.1:g.51857559G>A GRCh37
NC_000019.8:g.56549371G>A NCBI36
NG_007115.1:g.17114C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001985.3:c.61C>T MANE Select NP_001976.1:p.Arg21Ter
ENST00000309244.9:c.61C>T MANE Select ENSP00000311930.3:p.Arg21Ter
NM_001014763.1:c.334C>T NP_001014763.1:p.Arg112Ter
NM_001985.2:c.61C>T NP_001976.1:p.Arg21Ter
ENST00000309244.8:c.61C>T ENSP00000311930.3:p.Arg21Ter
ENST00000354232.8:c.334C>T ENSP00000346173.3:p.Arg112Ter
ENST00000593992.1:n.84C>T
ENST00000596253.1:c.61C>T ENSP00000469628.1:p.Arg21Ter
ENST00000600067.1:c.119C>T ENSP00000469452.1:p.Pro40Leu
XM_024451418.1:c.-51C>T XP_024307186.1:n.-51C>T