Canonical Allele Identifier: CA1801516663
Community Standard Title: NM_002485.5(NBN):c.553G= (p.Glu185=)
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89978251C= , CM000670.2:g.89978251C= GRCh38
NC_000008.10:g.90990479C= , CM000670.1:g.90990479C= GRCh37
NC_000008.9:g.91059655C= NCBI36
NG_008860.1:g.11421G= , LRG_158:g.11421G=

Transcript Alleles

HGVS Amino-acid Change
NM_002485.5:c.553G= MANE Select NP_002476.2:p.Glu185=
ENST00000265433.8:c.553G= MANE Select ENSP00000265433.4:p.Glu185=
NM_001024688.2:c.307G= NP_001019859.1:p.Glu103=
NM_001024688.3:c.307G= NP_001019859.1:p.Glu103=
NM_002485.4:c.553G= , LRG_158t1:c.553G= NP_002476.2:p.Glu185=
ENST00000265433.7:c.553G= ENSP00000265433.3:p.Glu185=
ENST00000396252.6:c.*426G= ENSP00000379551.2:n.*426G=
ENST00000409330.5:c.307G= ENSP00000386924.1:p.Glu103=
ENST00000494804.2:n.1855G=
ENST00000517337.2:c.307G= ENSP00000429971.2:p.Glu103=
ENST00000517772.5:c.307G= ENSP00000428717.1:p.Glu103=
ENST00000519426.5:c.320+3124G= ENSP00000430983.1:n.320+3124G=
ENST00000523444.2:c.307G= ENSP00000428252.2:p.Glu103=
ENST00000697292.1:c.553G= ENSP00000513229.1:p.Glu185=
ENST00000697293.1:c.553G= ENSP00000513230.1:p.Glu185=
ENST00000697294.1:c.*164G= ENSP00000513231.1:n.*164G=
ENST00000697295.1:c.37+6274G= ENSP00000513232.1:n.37+6274G=
ENST00000697296.1:c.*221G= ENSP00000513233.1:n.*221G=
ENST00000697297.1:n.2338G=
ENST00000697298.1:c.307G= ENSP00000513234.1:p.Glu103=
ENST00000697299.1:c.307G= ENSP00000513235.1:p.Glu103=
ENST00000697300.1:c.*157G= ENSP00000513236.1:n.*157G=
ENST00000697301.1:c.*74G= ENSP00000513237.1:n.*74G=
ENST00000697302.1:c.*74G= ENSP00000513238.1:n.*74G=
ENST00000697303.1:c.*157G= ENSP00000513239.1:n.*157G=
ENST00000697304.1:c.553G= ENSP00000513240.1:p.Glu185=
ENST00000697306.1:c.480+2483G= ENSP00000513241.1:n.480+2483G=
ENST00000697307.1:c.553G= ENSP00000513242.1:p.Glu185=
ENST00000697308.1:c.553G= ENSP00000513243.1:p.Glu185=
ENST00000697309.1:c.553G= ENSP00000513244.1:p.Glu185=
ENST00000697310.1:c.553G= ENSP00000513245.1:p.Glu185=
ENST00000697311.1:c.553G= ENSP00000513246.1:p.Glu185=
ENST00000697312.1:c.480+2483G= ENSP00000513247.1:n.480+2483G=
ENST00000697313.1:n.2344G=
ENST00000697314.1:n.2344G=
ENST00000697315.1:c.553G= ENSP00000513248.1:p.Glu185=
ENST00000697316.1:n.674G=
ENST00000697317.1:n.663G=
ENST00000697318.1:n.665G=
XM_011517044.1:c.529G= XP_011515346.1:p.Glu177=
XM_011517045.1:c.307G= XP_011515347.1:p.Glu103=
XM_011517046.1:c.553G= XP_011515348.1:p.Glu185=
XM_017013460.1:c.-327G= XP_016868949.1:n.-327G=
XM_017013462.2:c.-296+2483G= XP_016868951.1:n.-296+2483G=
XM_024447163.1:c.307G= XP_024302931.1:p.Glu103=
XM_024447164.1:c.307G= XP_024302932.1:p.Glu103=
XM_024447165.1:c.-327G= XP_024302933.1:n.-327G=
XR_928335.1:n.690G=