Canonical Allele Identifier: CA1801418179
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89943320G= , CM000670.2:g.89943320G= GRCh38
NC_000008.10:g.90955548G= , CM000670.1:g.90955548G= GRCh37
NC_000008.9:g.91024724G= NCBI36
NG_008860.1:g.46352C= , LRG_158:g.46352C=

Transcript Alleles

HGVS Amino-acid Change
NM_002485.5:c.2117C= MANE Select NP_002476.2:p.Ser706=
ENST00000265433.8:c.2117C= MANE Select ENSP00000265433.4:p.Ser706=
NM_001024688.2:c.1871C= NP_001019859.1:p.Ser624=
NM_001024688.3:c.1871C= NP_001019859.1:p.Ser624=
NM_002485.4:c.2117C= , LRG_158t1:c.2117C= NP_002476.2:p.Ser706=
ENST00000265433.7:c.2117C= ENSP00000265433.3:p.Ser706=
ENST00000396252.6:c.*1990C= ENSP00000379551.2:n.*1990C=
ENST00000409330.5:c.1871C= ENSP00000386924.1:p.Ser624=
ENST00000494804.2:n.3419C=
ENST00000517337.2:c.1871C= ENSP00000429971.2:p.Ser624=
ENST00000523444.2:c.1871C= ENSP00000428252.2:p.Ser624=
ENST00000613033.1:c.227C= ENSP00000484487.1:p.Ser76=
ENST00000697292.1:c.2117C= ENSP00000513229.1:p.Ser706=
ENST00000697293.1:c.2117C= ENSP00000513230.1:p.Ser706=
ENST00000697294.1:c.*1728C= ENSP00000513231.1:n.*1728C=
ENST00000697295.1:c.*1426C= ENSP00000513232.1:n.*1426C=
ENST00000697296.1:c.*1785C= ENSP00000513233.1:n.*1785C=
ENST00000697297.1:n.3902C=
ENST00000697298.1:c.1871C= ENSP00000513234.1:p.Ser624=
ENST00000697299.1:c.1871C= ENSP00000513235.1:p.Ser624=
ENST00000697300.1:c.*1721C= ENSP00000513236.1:n.*1721C=
ENST00000697301.1:c.*1638C= ENSP00000513237.1:n.*1638C=
ENST00000697302.1:c.*1638C= ENSP00000513238.1:n.*1638C=
ENST00000697303.1:c.*1721C= ENSP00000513239.1:n.*1721C=
ENST00000697304.1:c.1805C= ENSP00000513240.1:p.Ser602=
ENST00000697305.1:n.2384C=
ENST00000697306.1:c.*2668C= ENSP00000513241.1:n.*2668C=
ENST00000697307.1:c.1892C= ENSP00000513242.1:p.Ser631=
ENST00000697308.1:c.2048C= ENSP00000513243.1:p.Ser683=
ENST00000697309.1:c.2117C= ENSP00000513244.1:p.Ser706=
ENST00000697310.1:c.2117C= ENSP00000513245.1:p.Ser706=
ENST00000697311.1:c.2117C= ENSP00000513246.1:p.Ser706=
ENST00000697312.1:c.*1515C= ENSP00000513247.1:n.*1515C=
ENST00000697313.1:n.2688-7708C=
ENST00000697314.1:n.3637-7708C=
ENST00000697315.1:c.2117C= ENSP00000513248.1:p.Ser706=
ENST00000697316.1:n.2238C=
XM_011517044.1:c.2093C= XP_011515346.1:p.Ser698=
XM_011517045.1:c.1871C= XP_011515347.1:p.Ser624=
XM_017013460.1:c.1238C= XP_016868949.1:p.Ser413=
XM_017013462.2:c.1238C= XP_016868951.1:p.Ser413=
XM_024447163.1:c.1871C= XP_024302931.1:p.Ser624=
XM_024447164.1:c.1871C= XP_024302932.1:p.Ser624=
XM_024447165.1:c.1238C= XP_024302933.1:p.Ser413=