Canonical Allele Identifier: CA345929999

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15942098A>C , CM000664.2:g.15942098A>C GRCh38
NC_000002.11:g.16082220A>C , CM000664.1:g.16082220A>C GRCh37
NC_000002.10:g.15999671A>C NCBI36
NG_007457.1:g.6538A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000281043.4:c.34A>C (MYCN) MANE Select ENSP00000281043.3:p.Met12Leu
ENST00000638417.1:c.157+1355A>C (MYCN) ENSP00000491476.1:n.157+1355A>C
ENST00000281043.3:c.34A>C (MYCN) ENSP00000281043.3:p.Met12Leu
NM_001293228.1:c.34A>C (MYCN) NP_001280157.1:p.Met12Leu
NM_001293231.1:c.157+1355A>C (MYCN) NP_001280160.1:n.157+1355A>C
NM_001293233.1:c.308A>C (MYCN) NP_001280162.1:p.His103Pro
NM_005378.5:c.34A>C (MYCN) NP_005369.2:p.Met12Leu
NM_001329968.1:c.-234+54T>G (MYCNOS) NP_001316897.1:n.-234+54T>G
XM_024452527.1:c.2T>G (MYCNOS) XP_024308295.1:p.Met1Arg
XM_024452528.1:c.-234+284T>G (MYCNOS) XP_024308296.1:n.-234+284T>G
NM_005378.6:c.34A>C (MYCN) MANE Select NP_005369.2:p.Met12Leu
NM_001293228.2:c.34A>C (MYCN) NP_001280157.1:p.Met12Leu
NM_001293231.2:c.157+1355A>C (MYCN) NP_001280160.1:n.157+1355A>C
NM_001293233.2:c.308A>C (MYCN) NP_001280162.1:p.His103Pro
NR_161163.1:n.282+54T>G (MYCNOS)