Canonical Allele Identifier: CA9610888
Community Standard Title: NM_001985.3(ETFB):c.58-57C>T
Gene: ETFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.51354365G>A , CM000681.2:g.51354365G>A GRCh38
NC_000019.9:g.51857619G>A , CM000681.1:g.51857619G>A GRCh37
NC_000019.8:g.56549431G>A NCBI36
NG_007115.1:g.17054C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001985.3:c.58-57C>T MANE Select NP_001976.1:n.58-57C>T
ENST00000309244.9:c.58-57C>T MANE Select ENSP00000311930.3:n.58-57C>T
NM_001014763.1:c.274C>T NP_001014763.1:p.Pro92Ser
NM_001985.2:c.58-57C>T NP_001976.1:n.58-57C>T
ENST00000309244.8:c.58-57C>T ENSP00000311930.3:n.58-57C>T
ENST00000354232.8:c.274C>T ENSP00000346173.3:p.Pro92Ser
ENST00000593992.1:n.81-57C>T
ENST00000596253.1:c.58-57C>T ENSP00000469628.1:n.58-57C>T
ENST00000600067.1:c.116-57C>T ENSP00000469452.1:n.116-57C>T
XM_024451418.1:c.-54-57C>T XP_024307186.1:n.-54-57C>T