Canonical Allele Identifier: CA345930011

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15942102T>C , CM000664.2:g.15942102T>C GRCh38
NC_000002.11:g.16082224T>C , CM000664.1:g.16082224T>C GRCh37
NC_000002.10:g.15999675T>C NCBI36
NG_007457.1:g.6542T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000281043.4:c.38T>C (MYCN) MANE Select ENSP00000281043.3:p.Ile13Thr
ENST00000638417.1:c.157+1359T>C (MYCN) ENSP00000491476.1:n.157+1359T>C
ENST00000281043.3:c.38T>C (MYCN) ENSP00000281043.3:p.Ile13Thr
NM_001293228.1:c.38T>C (MYCN) NP_001280157.1:p.Ile13Thr
NM_001293231.1:c.157+1359T>C (MYCN) NP_001280160.1:n.157+1359T>C
NM_001293233.1:c.312T>C (MYCN) NP_001280162.1:p.Asp104=
NM_005378.5:c.38T>C (MYCN) NP_005369.2:p.Ile13Thr
NM_001329968.1:c.-234+50A>G (MYCNOS) NP_001316897.1:n.-234+50A>G
XM_024452528.1:c.-234+280A>G (MYCNOS) XP_024308296.1:n.-234+280A>G
NM_005378.6:c.38T>C (MYCN) MANE Select NP_005369.2:p.Ile13Thr
NM_001293228.2:c.38T>C (MYCN) NP_001280157.1:p.Ile13Thr
NM_001293231.2:c.157+1359T>C (MYCN) NP_001280160.1:n.157+1359T>C
NM_001293233.2:c.312T>C (MYCN) NP_001280162.1:p.Asp104=
NR_161163.1:n.282+50A>G (MYCNOS)