Canonical Allele Identifier: CA1538152

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15942343G>A , CM000664.2:g.15942343G>A GRCh38
NC_000002.11:g.16082465G>A , CM000664.1:g.16082465G>A GRCh37
NC_000002.10:g.15999916G>A NCBI36
NG_007457.1:g.6783G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281043.4:c.279G>A (MYCN) MANE Select ENSP00000281043.3:p.Glu93=
ENST00000638417.1:c.157+1600G>A (MYCN) ENSP00000491476.1:n.157+1600G>A
ENST00000281043.3:c.279G>A (MYCN) ENSP00000281043.3:p.Glu93=
NM_001293228.1:c.279G>A (MYCN) NP_001280157.1:p.Glu93=
NM_001293231.1:c.157+1600G>A (MYCN) NP_001280160.1:n.157+1600G>A
NM_001293233.1:c.*214G>A (MYCN) NP_001280162.1:n.*214G>A
NM_005378.5:c.279G>A (MYCN) NP_005369.2:p.Glu93=
XM_024452528.1:c.-234+39C>T (MYCNOS) XP_024308296.1:n.-234+39C>T
NM_005378.6:c.279G>A (MYCN) MANE Select NP_005369.2:p.Glu93=
NM_001293228.2:c.279G>A (MYCN) NP_001280157.1:p.Glu93=
NM_001293231.2:c.157+1600G>A (MYCN) NP_001280160.1:n.157+1600G>A
NM_001293233.2:c.*214G>A (MYCN) NP_001280162.1:n.*214G>A
NR_161163.1:n.91C>T (MYCNOS)