Canonical Allele Identifier: CA201638
Community Standard Title: NM_005378.6(MYCN):c.207G>A (p.Glu69=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15942271G>A , CM000664.2:g.15942271G>A GRCh38
NC_000002.11:g.16082393G>A , CM000664.1:g.16082393G>A GRCh37
NC_000002.10:g.15999844G>A NCBI36
NG_007457.1:g.6711G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005378.6:c.207G>A (MYCN) MANE Select NP_005369.2:p.Glu69=
ENST00000281043.4:c.207G>A (MYCN) MANE Select ENSP00000281043.3:p.Glu69=
NM_001293228.1:c.207G>A (MYCN) NP_001280157.1:p.Glu69=
NM_001293228.2:c.207G>A (MYCN) NP_001280157.1:p.Glu69=
NM_001293231.1:c.157+1528G>A (MYCN) NP_001280160.1:n.157+1528G>A
NM_001293231.2:c.157+1528G>A (MYCN) NP_001280160.1:n.157+1528G>A
NM_001293233.1:c.*142G>A (MYCN) NP_001280162.1:n.*142G>A
NM_001293233.2:c.*142G>A (MYCN) NP_001280162.1:n.*142G>A
NM_005378.5:c.207G>A (MYCN) NP_005369.2:p.Glu69=
NR_161163.1:n.163C>T (MYCNOS)
ENST00000281043.3:c.207G>A (MYCN) ENSP00000281043.3:p.Glu69=
ENST00000638417.1:c.157+1528G>A (MYCN) ENSP00000491476.1:n.157+1528G>A
XM_024452528.1:c.-234+111C>T (MYCNOS) XP_024308296.1:n.-234+111C>T