Canonical Allele Identifier: CA345930024

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15942108A>C , CM000664.2:g.15942108A>C GRCh38
NC_000002.11:g.16082230A>C , CM000664.1:g.16082230A>C GRCh37
NC_000002.10:g.15999681A>C NCBI36
NG_007457.1:g.6548A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000281043.4:c.44A>C (MYCN) MANE Select ENSP00000281043.3:p.Lys15Thr
ENST00000638417.1:c.157+1365A>C (MYCN) ENSP00000491476.1:n.157+1365A>C
ENST00000281043.3:c.44A>C (MYCN) ENSP00000281043.3:p.Lys15Thr
NM_001293228.1:c.44A>C (MYCN) NP_001280157.1:p.Lys15Thr
NM_001293231.1:c.157+1365A>C (MYCN) NP_001280160.1:n.157+1365A>C
NM_001293233.1:c.318A>C (MYCN) NP_001280162.1:p.Gln106His
NM_005378.5:c.44A>C (MYCN) NP_005369.2:p.Lys15Thr
NM_001329968.1:c.-234+44T>G (MYCNOS) NP_001316897.1:n.-234+44T>G
XM_024452528.1:c.-234+274T>G (MYCNOS) XP_024308296.1:n.-234+274T>G
NM_005378.6:c.44A>C (MYCN) MANE Select NP_005369.2:p.Lys15Thr
NM_001293228.2:c.44A>C (MYCN) NP_001280157.1:p.Lys15Thr
NM_001293231.2:c.157+1365A>C (MYCN) NP_001280160.1:n.157+1365A>C
NM_001293233.2:c.318A>C (MYCN) NP_001280162.1:p.Gln106His
NR_161163.1:n.282+44T>G (MYCNOS)