Canonical Allele Identifier: CA496171438
Community Standard Title: NM_000903.3(NQO1):c.415C>A (p.Arg139=)
Gene: NQO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.69714966G>T , CM000678.2:g.69714966G>T GRCh38
NC_000016.9:g.69748869G>T , CM000678.1:g.69748869G>T GRCh37
NC_000016.8:g.68306370G>T NCBI36
NG_011504.1:g.16665C>A
NG_011504.2:g.16665C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000903.3:c.415C>A MANE Select NP_000894.1:p.Arg139=
ENST00000320623.10:c.415C>A MANE Select ENSP00000319788.5:p.Arg139=
NM_000903.2:c.415C>A NP_000894.1:p.Arg139=
NM_001025433.1:c.415C>A NP_001020604.1:p.Arg139=
NM_001025433.2:c.415C>A NP_001020604.1:p.Arg139=
NM_001025434.1:c.304-1837C>A NP_001020605.1:n.304-1837C>A
NM_001025434.2:c.304-1837C>A NP_001020605.1:n.304-1837C>A
NM_001286137.1:c.303+3157C>A NP_001273066.1:n.303+3157C>A
NM_001286137.2:c.303+3157C>A NP_001273066.1:n.303+3157C>A
ENST00000320623.9:c.415C>A ENSP00000319788.5:p.Arg139=
ENST00000379046.6:c.304-1837C>A ENSP00000368334.2:n.304-1837C>A
ENST00000379047.7:c.415C>A ENSP00000368335.3:p.Arg139=
ENST00000439109.6:c.303+3157C>A ENSP00000398330.2:n.303+3157C>A
ENST00000561500.5:c.304-1837C>A ENSP00000456282.1:n.304-1837C>A
ENST00000564043.1:c.352C>A ENSP00000455020.1:p.Arg118=