Canonical Allele Identifier: CA1538159

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15942375G>A , CM000664.2:g.15942375G>A GRCh38
NC_000002.11:g.16082497G>A , CM000664.1:g.16082497G>A GRCh37
NC_000002.10:g.15999948G>A NCBI36
NG_007457.1:g.6815G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005378.6:c.311G>A (MYCN) MANE Select NP_005369.2:p.Gly104Asp
ENST00000281043.4:c.311G>A (MYCN) MANE Select ENSP00000281043.3:p.Gly104Asp
NM_001293228.1:c.311G>A (MYCN) NP_001280157.1:p.Gly104Asp
NM_001293228.2:c.311G>A (MYCN) NP_001280157.1:p.Gly104Asp
NM_001293231.1:c.157+1632G>A (MYCN) NP_001280160.1:n.157+1632G>A
NM_001293231.2:c.157+1632G>A (MYCN) NP_001280160.1:n.157+1632G>A
NM_001293233.1:c.*246G>A (MYCN) NP_001280162.1:n.*246G>A
NM_001293233.2:c.*246G>A (MYCN) NP_001280162.1:n.*246G>A
NM_005378.5:c.311G>A (MYCN) NP_005369.2:p.Gly104Asp
NR_161163.1:n.59C>T (MYCNOS)
ENST00000281043.3:c.311G>A (MYCN) ENSP00000281043.3:p.Gly104Asp
ENST00000638417.1:c.157+1632G>A (MYCN) ENSP00000491476.1:n.157+1632G>A
XM_024452528.1:c.-234+7C>T (MYCNOS) XP_024308296.1:n.-234+7C>T