Canonical Allele Identifier: CA345932010
Gene: MYCN HGNC NCBI

Linked Data

gnomAD v4: 2-15945683-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15945683C>A , CM000664.2:g.15945683C>A GRCh38
NC_000002.11:g.16085805C>A , CM000664.1:g.16085805C>A GRCh37
NC_000002.10:g.16003256C>A NCBI36
NG_007457.1:g.10123C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703162.1:n.330C>A
ENST00000281043.4:c.981C>A MANE Select ENSP00000281043.3:p.His327Gln
ENST00000638417.1:c.348C>A ENSP00000491476.1:p.His116Gln
ENST00000281043.3:c.981C>A ENSP00000281043.3:p.His327Gln
NM_001293228.1:c.981C>A NP_001280157.1:p.His327Gln
NM_001293231.1:c.348C>A NP_001280160.1:p.His116Gln
NM_001293233.1:c.*916C>A NP_001280162.1:n.*916C>A
NM_005378.5:c.981C>A NP_005369.2:p.His327Gln
NM_005378.6:c.981C>A MANE Select NP_005369.2:p.His327Gln
NM_001293228.2:c.981C>A NP_001280157.1:p.His327Gln
NM_001293231.2:c.348C>A NP_001280160.1:p.His116Gln
NM_001293233.2:c.*916C>A NP_001280162.1:n.*916C>A