Canonical Allele Identifier: CA1801419540
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89946239A= , CM000670.2:g.89946239A= GRCh38
NC_000008.10:g.90958467A= , CM000670.1:g.90958467A= GRCh37
NC_000008.9:g.91027643A= NCBI36
NG_008860.1:g.43433T= , LRG_158:g.43433T=

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.3273T=
ENST00000517337.2:c.1725T= ENSP00000429971.2:p.Thr575=
ENST00000523444.2:c.1725T= ENSP00000428252.2:p.Thr575=
ENST00000697292.1:c.1971T= ENSP00000513229.1:p.Thr657=
ENST00000697293.1:c.1971T= ENSP00000513230.1:p.Thr657=
ENST00000697294.1:c.*1582T= ENSP00000513231.1:n.*1582T=
ENST00000697295.1:c.*1280T= ENSP00000513232.1:n.*1280T=
ENST00000697296.1:c.*1639T= ENSP00000513233.1:n.*1639T=
ENST00000697297.1:n.3756T=
ENST00000697298.1:c.1725T= ENSP00000513234.1:p.Thr575=
ENST00000697299.1:c.1725T= ENSP00000513235.1:p.Thr575=
ENST00000697300.1:c.*1575T= ENSP00000513236.1:n.*1575T=
ENST00000697301.1:c.*1492T= ENSP00000513237.1:n.*1492T=
ENST00000697302.1:c.*1492T= ENSP00000513238.1:n.*1492T=
ENST00000697303.1:c.*1575T= ENSP00000513239.1:n.*1575T=
ENST00000697304.1:c.1659T= ENSP00000513240.1:p.Thr553=
ENST00000697306.1:c.*2522T= ENSP00000513241.1:n.*2522T=
ENST00000697307.1:c.1846-2873T= ENSP00000513242.1:n.1846-2873T=
ENST00000697308.1:c.1902T= ENSP00000513243.1:p.Thr634=
ENST00000697309.1:c.1971T= ENSP00000513244.1:p.Thr657=
ENST00000697310.1:c.1971T= ENSP00000513245.1:p.Thr657=
ENST00000697311.1:c.1971T= ENSP00000513246.1:p.Thr657=
ENST00000697312.1:c.*1369T= ENSP00000513247.1:n.*1369T=
ENST00000697313.1:n.2688-10627T=
ENST00000697314.1:n.3636+7005T=
ENST00000697315.1:c.1971T= ENSP00000513248.1:p.Thr657=
ENST00000697316.1:n.2092T=
ENST00000697317.1:n.2062T=
ENST00000265433.8:c.1971T= MANE Select ENSP00000265433.4:p.Thr657=
ENST00000265433.7:c.1971T= ENSP00000265433.3:p.Thr657=
ENST00000396252.6:c.*1844T= ENSP00000379551.2:n.*1844T=
ENST00000409330.5:c.1725T= ENSP00000386924.1:p.Thr575=
ENST00000520325.1:n.387T=
ENST00000613033.1:c.180+1585T= ENSP00000484487.1:n.180+1585T=
NM_001024688.2:c.1725T= NP_001019859.1:p.Thr575=
NM_002485.4:c.1971T= , LRG_158t1:c.1971T= NP_002476.2:p.Thr657=
XM_011517044.1:c.1947T= XP_011515346.1:p.Thr649=
XM_011517045.1:c.1725T= XP_011515347.1:p.Thr575=
XM_017013460.1:c.1092T= XP_016868949.1:p.Thr364=
XM_017013462.2:c.1092T= XP_016868951.1:p.Thr364=
XM_024447163.1:c.1725T= XP_024302931.1:p.Thr575=
XM_024447164.1:c.1725T= XP_024302932.1:p.Thr575=
XM_024447165.1:c.1092T= XP_024302933.1:p.Thr364=
NM_002485.5:c.1971T= MANE Select NP_002476.2:p.Thr657=
NM_001024688.3:c.1725T= NP_001019859.1:p.Thr575=