Canonical Allele Identifier: CA371655624
Gene: NBN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89953543T>G , CM000670.2:g.89953543T>G GRCh38
NC_000008.10:g.90965771T>G , CM000670.1:g.90965771T>G GRCh37
NC_000008.9:g.91034947T>G NCBI36
NG_008860.1:g.36129A>C , LRG_158:g.36129A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.2848A>C
ENST00000517337.2:c.1300A>C ENSP00000429971.2:p.Thr434Pro
ENST00000523444.2:c.1300A>C ENSP00000428252.2:p.Thr434Pro
ENST00000697292.1:c.1546A>C ENSP00000513229.1:p.Thr516Pro
ENST00000697293.1:c.1546A>C ENSP00000513230.1:p.Thr516Pro
ENST00000697294.1:c.*1157A>C ENSP00000513231.1:n.*1157A>C
ENST00000697295.1:c.*855A>C ENSP00000513232.1:n.*855A>C
ENST00000697296.1:c.*1214A>C ENSP00000513233.1:n.*1214A>C
ENST00000697297.1:n.3331A>C
ENST00000697298.1:c.1300A>C ENSP00000513234.1:p.Thr434Pro
ENST00000697299.1:c.1300A>C ENSP00000513235.1:p.Thr434Pro
ENST00000697300.1:c.*1150A>C ENSP00000513236.1:n.*1150A>C
ENST00000697301.1:c.*1067A>C ENSP00000513237.1:n.*1067A>C
ENST00000697302.1:c.*1067A>C ENSP00000513238.1:n.*1067A>C
ENST00000697303.1:c.*1150A>C ENSP00000513239.1:n.*1150A>C
ENST00000697304.1:c.1234A>C ENSP00000513240.1:p.Thr412Pro
ENST00000697306.1:c.*546A>C ENSP00000513241.1:n.*546A>C
ENST00000697307.1:c.1546A>C ENSP00000513242.1:p.Thr516Pro
ENST00000697308.1:c.1546A>C ENSP00000513243.1:p.Thr516Pro
ENST00000697309.1:c.1546A>C ENSP00000513244.1:p.Thr516Pro
ENST00000697310.1:c.1546A>C ENSP00000513245.1:p.Thr516Pro
ENST00000697311.1:c.1546A>C ENSP00000513246.1:p.Thr516Pro
ENST00000697312.1:c.*944A>C ENSP00000513247.1:n.*944A>C
ENST00000697313.1:n.2687+16821A>C
ENST00000697314.1:n.3337A>C
ENST00000697315.1:c.1546A>C ENSP00000513248.1:p.Thr516Pro
ENST00000697316.1:n.1667A>C
ENST00000697317.1:n.1656A>C
ENST00000697318.1:n.1658A>C
ENST00000265433.8:c.1546A>C MANE Select ENSP00000265433.4:p.Thr516Pro
ENST00000265433.7:c.1546A>C ENSP00000265433.3:p.Thr516Pro
ENST00000396252.6:c.*1419A>C ENSP00000379551.2:n.*1419A>C
ENST00000409330.5:c.1300A>C ENSP00000386924.1:p.Thr434Pro
NM_001024688.2:c.1300A>C NP_001019859.1:p.Thr434Pro
NM_002485.4:c.1546A>C , LRG_158t1:c.1546A>C NP_002476.2:p.Thr516Pro
XM_011517044.1:c.1522A>C XP_011515346.1:p.Thr508Pro
XM_011517045.1:c.1300A>C XP_011515347.1:p.Thr434Pro
XR_928335.1:n.1685A>C
XM_017013460.1:c.667A>C XP_016868949.1:p.Thr223Pro
XM_017013462.2:c.667A>C XP_016868951.1:p.Thr223Pro
XM_024447163.1:c.1300A>C XP_024302931.1:p.Thr434Pro
XM_024447164.1:c.1300A>C XP_024302932.1:p.Thr434Pro
XM_024447165.1:c.667A>C XP_024302933.1:p.Thr223Pro
NM_002485.5:c.1546A>C MANE Select NP_002476.2:p.Thr516Pro
NM_001024688.3:c.1300A>C NP_001019859.1:p.Thr434Pro