Canonical Allele Identifier: CA345930004

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15942100G>A , CM000664.2:g.15942100G>A GRCh38
NC_000002.11:g.16082222G>A , CM000664.1:g.16082222G>A GRCh37
NC_000002.10:g.15999673G>A NCBI36
NG_007457.1:g.6540G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281043.4:c.36G>A (MYCN) MANE Select ENSP00000281043.3:p.Met12Ile
ENST00000638417.1:c.157+1357G>A (MYCN) ENSP00000491476.1:n.157+1357G>A
ENST00000281043.3:c.36G>A (MYCN) ENSP00000281043.3:p.Met12Ile
NM_001293228.1:c.36G>A (MYCN) NP_001280157.1:p.Met12Ile
NM_001293231.1:c.157+1357G>A (MYCN) NP_001280160.1:n.157+1357G>A
NM_001293233.1:c.310G>A (MYCN) NP_001280162.1:p.Asp104Asn
NM_005378.5:c.36G>A (MYCN) NP_005369.2:p.Met12Ile
NM_001329968.1:c.-234+52C>T (MYCNOS) NP_001316897.1:n.-234+52C>T
XM_024452527.1:c.-1C>T (MYCNOS) XP_024308295.1:n.-1C>T
XM_024452528.1:c.-234+282C>T (MYCNOS) XP_024308296.1:n.-234+282C>T
NM_005378.6:c.36G>A (MYCN) MANE Select NP_005369.2:p.Met12Ile
NM_001293228.2:c.36G>A (MYCN) NP_001280157.1:p.Met12Ile
NM_001293231.2:c.157+1357G>A (MYCN) NP_001280160.1:n.157+1357G>A
NM_001293233.2:c.310G>A (MYCN) NP_001280162.1:p.Asp104Asn
NR_161163.1:n.282+52C>T (MYCNOS)