Canonical Allele Identifier: CA371675859

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89943354C>T , CM000670.2:g.89943354C>T	GRCh38
NC_000008.10:g.90955582C>T , CM000670.1:g.90955582C>T	GRCh37
NC_000008.9:g.91024758C>T	NCBI36
NG_008860.1:g.46318G>A , LRG_158:g.46318G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3385G>A
ENST00000517337.2:c.1837G>A	ENSP00000429971.2:p.Gly613Arg
ENST00000523444.2:c.1837G>A	ENSP00000428252.2:p.Gly613Arg
ENST00000697292.1:c.2083G>A	ENSP00000513229.1:p.Gly695Arg
ENST00000697293.1:c.2083G>A	ENSP00000513230.1:p.Gly695Arg
ENST00000697294.1:c.*1694G>A	ENSP00000513231.1:n.*1694G>A
ENST00000697295.1:c.*1392G>A	ENSP00000513232.1:n.*1392G>A
ENST00000697296.1:c.*1751G>A	ENSP00000513233.1:n.*1751G>A
ENST00000697297.1:n.3868G>A
ENST00000697298.1:c.1837G>A	ENSP00000513234.1:p.Gly613Arg
ENST00000697299.1:c.1837G>A	ENSP00000513235.1:p.Gly613Arg
ENST00000697300.1:c.*1687G>A	ENSP00000513236.1:n.*1687G>A
ENST00000697301.1:c.*1604G>A	ENSP00000513237.1:n.*1604G>A
ENST00000697302.1:c.*1604G>A	ENSP00000513238.1:n.*1604G>A
ENST00000697303.1:c.*1687G>A	ENSP00000513239.1:n.*1687G>A
ENST00000697304.1:c.1771G>A	ENSP00000513240.1:p.Gly591Arg
ENST00000697305.1:n.2350G>A
ENST00000697306.1:c.*2634G>A	ENSP00000513241.1:n.*2634G>A
ENST00000697307.1:c.1858G>A	ENSP00000513242.1:p.Gly620Arg
ENST00000697308.1:c.2014G>A	ENSP00000513243.1:p.Gly672Arg
ENST00000697309.1:c.2083G>A	ENSP00000513244.1:p.Gly695Arg
ENST00000697310.1:c.2083G>A	ENSP00000513245.1:p.Gly695Arg
ENST00000697311.1:c.2083G>A	ENSP00000513246.1:p.Gly695Arg
ENST00000697312.1:c.*1481G>A	ENSP00000513247.1:n.*1481G>A
ENST00000697313.1:n.2688-7742G>A
ENST00000697314.1:n.3637-7742G>A
ENST00000697315.1:c.2083G>A	ENSP00000513248.1:p.Gly695Arg
ENST00000697316.1:n.2204G>A
ENST00000265433.8:c.2083G>A MANE Select	ENSP00000265433.4:p.Gly695Arg
ENST00000265433.7:c.2083G>A	ENSP00000265433.3:p.Gly695Arg
ENST00000396252.6:c.*1956G>A	ENSP00000379551.2:n.*1956G>A
ENST00000409330.5:c.1837G>A	ENSP00000386924.1:p.Gly613Arg
ENST00000613033.1:c.193G>A	ENSP00000484487.1:p.Gly65Arg
NM_001024688.2:c.1837G>A	NP_001019859.1:p.Gly613Arg
NM_002485.4:c.2083G>A , LRG_158t1:c.2083G>A	NP_002476.2:p.Gly695Arg
XM_011517044.1:c.2059G>A	XP_011515346.1:p.Gly687Arg
XM_011517045.1:c.1837G>A	XP_011515347.1:p.Gly613Arg
XM_017013460.1:c.1204G>A	XP_016868949.1:p.Gly402Arg
XM_017013462.2:c.1204G>A	XP_016868951.1:p.Gly402Arg
XM_024447163.1:c.1837G>A	XP_024302931.1:p.Gly613Arg
XM_024447164.1:c.1837G>A	XP_024302932.1:p.Gly613Arg
XM_024447165.1:c.1204G>A	XP_024302933.1:p.Gly402Arg
NM_002485.5:c.2083G>A MANE Select	NP_002476.2:p.Gly695Arg
NM_001024688.3:c.1837G>A	NP_001019859.1:p.Gly613Arg