Canonical Allele Identifier: CA1801419493
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89946173A= , CM000670.2:g.89946173A= GRCh38
NC_000008.10:g.90958401A= , CM000670.1:g.90958401A= GRCh37
NC_000008.9:g.91027577A= NCBI36
NG_008860.1:g.43499T= , LRG_158:g.43499T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.3339T=
ENST00000517337.2:c.1791T= ENSP00000429971.2:p.Tyr597=
ENST00000523444.2:c.1791T= ENSP00000428252.2:p.Tyr597=
ENST00000697292.1:c.2037T= ENSP00000513229.1:p.Tyr679=
ENST00000697293.1:c.2037T= ENSP00000513230.1:p.Tyr679=
ENST00000697294.1:c.*1648T= ENSP00000513231.1:n.*1648T=
ENST00000697295.1:c.*1346T= ENSP00000513232.1:n.*1346T=
ENST00000697296.1:c.*1705T= ENSP00000513233.1:n.*1705T=
ENST00000697297.1:n.3822T=
ENST00000697298.1:c.1791T= ENSP00000513234.1:p.Tyr597=
ENST00000697299.1:c.1791T= ENSP00000513235.1:p.Tyr597=
ENST00000697300.1:c.*1641T= ENSP00000513236.1:n.*1641T=
ENST00000697301.1:c.*1558T= ENSP00000513237.1:n.*1558T=
ENST00000697302.1:c.*1558T= ENSP00000513238.1:n.*1558T=
ENST00000697303.1:c.*1641T= ENSP00000513239.1:n.*1641T=
ENST00000697304.1:c.1725T= ENSP00000513240.1:p.Tyr575=
ENST00000697306.1:c.*2588T= ENSP00000513241.1:n.*2588T=
ENST00000697307.1:c.1846-2807T= ENSP00000513242.1:n.1846-2807T=
ENST00000697308.1:c.1968T= ENSP00000513243.1:p.Tyr656=
ENST00000697309.1:c.2037T= ENSP00000513244.1:p.Tyr679=
ENST00000697310.1:c.2037T= ENSP00000513245.1:p.Tyr679=
ENST00000697311.1:c.2037T= ENSP00000513246.1:p.Tyr679=
ENST00000697312.1:c.*1435T= ENSP00000513247.1:n.*1435T=
ENST00000697313.1:n.2688-10561T=
ENST00000697314.1:n.3636+7071T=
ENST00000697315.1:c.2037T= ENSP00000513248.1:p.Tyr679=
ENST00000697316.1:n.2158T=
ENST00000697317.1:n.2128T=
ENST00000265433.8:c.2037T= MANE Select ENSP00000265433.4:p.Tyr679=
ENST00000265433.7:c.2037T= ENSP00000265433.3:p.Tyr679=
ENST00000396252.6:c.*1910T= ENSP00000379551.2:n.*1910T=
ENST00000409330.5:c.1791T= ENSP00000386924.1:p.Tyr597=
ENST00000520325.1:n.453T=
ENST00000613033.1:c.180+1651T= ENSP00000484487.1:n.180+1651T=
NM_001024688.2:c.1791T= NP_001019859.1:p.Tyr597=
NM_002485.4:c.2037T= , LRG_158t1:c.2037T= NP_002476.2:p.Tyr679=
XM_011517044.1:c.2013T= XP_011515346.1:p.Tyr671=
XM_011517045.1:c.1791T= XP_011515347.1:p.Tyr597=
XM_017013460.1:c.1158T= XP_016868949.1:p.Tyr386=
XM_017013462.2:c.1158T= XP_016868951.1:p.Tyr386=
XM_024447163.1:c.1791T= XP_024302931.1:p.Tyr597=
XM_024447164.1:c.1791T= XP_024302932.1:p.Tyr597=
XM_024447165.1:c.1158T= XP_024302933.1:p.Tyr386=
NM_002485.5:c.2037T= MANE Select NP_002476.2:p.Tyr679=
NM_001024688.3:c.1791T= NP_001019859.1:p.Tyr597=