Canonical Allele Identifier: CA345932144
Gene: MYCN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15945742A>T , CM000664.2:g.15945742A>T GRCh38
NC_000002.11:g.16085864A>T , CM000664.1:g.16085864A>T GRCh37
NC_000002.10:g.16003315A>T NCBI36
NG_007457.1:g.10182A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703162.1:n.389A>T
ENST00000281043.4:c.1040A>T MANE Select ENSP00000281043.3:p.Gln347Leu
ENST00000638417.1:c.407A>T ENSP00000491476.1:p.Gln136Leu
ENST00000281043.3:c.1040A>T ENSP00000281043.3:p.Gln347Leu
NM_001293228.1:c.1040A>T NP_001280157.1:p.Gln347Leu
NM_001293231.1:c.407A>T NP_001280160.1:p.Gln136Leu
NM_001293233.1:c.*975A>T NP_001280162.1:n.*975A>T
NM_005378.5:c.1040A>T NP_005369.2:p.Gln347Leu
NM_005378.6:c.1040A>T MANE Select NP_005369.2:p.Gln347Leu
NM_001293228.2:c.1040A>T NP_001280157.1:p.Gln347Leu
NM_001293231.2:c.407A>T NP_001280160.1:p.Gln136Leu
NM_001293233.2:c.*975A>T NP_001280162.1:n.*975A>T