Canonical Allele Identifier: CA1801516782
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89978273A= , CM000670.2:g.89978273A= GRCh38
NC_000008.10:g.90990501A= , CM000670.1:g.90990501A= GRCh37
NC_000008.9:g.91059677A= NCBI36
NG_008860.1:g.11399T= , LRG_158:g.11399T=

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.1833T=
ENST00000517337.2:c.285T= ENSP00000429971.2:p.Phe95=
ENST00000523444.2:c.285T= ENSP00000428252.2:p.Phe95=
ENST00000697292.1:c.531T= ENSP00000513229.1:p.Phe177=
ENST00000697293.1:c.531T= ENSP00000513230.1:p.Phe177=
ENST00000697294.1:c.*142T= ENSP00000513231.1:n.*142T=
ENST00000697295.1:c.37+6252T= ENSP00000513232.1:n.37+6252T=
ENST00000697296.1:c.*199T= ENSP00000513233.1:n.*199T=
ENST00000697297.1:n.2316T=
ENST00000697298.1:c.285T= ENSP00000513234.1:p.Phe95=
ENST00000697299.1:c.285T= ENSP00000513235.1:p.Phe95=
ENST00000697300.1:c.*135T= ENSP00000513236.1:n.*135T=
ENST00000697301.1:c.*52T= ENSP00000513237.1:n.*52T=
ENST00000697302.1:c.*52T= ENSP00000513238.1:n.*52T=
ENST00000697303.1:c.*135T= ENSP00000513239.1:n.*135T=
ENST00000697304.1:c.531T= ENSP00000513240.1:p.Phe177=
ENST00000697306.1:c.480+2461T= ENSP00000513241.1:n.480+2461T=
ENST00000697307.1:c.531T= ENSP00000513242.1:p.Phe177=
ENST00000697308.1:c.531T= ENSP00000513243.1:p.Phe177=
ENST00000697309.1:c.531T= ENSP00000513244.1:p.Phe177=
ENST00000697310.1:c.531T= ENSP00000513245.1:p.Phe177=
ENST00000697311.1:c.531T= ENSP00000513246.1:p.Phe177=
ENST00000697312.1:c.480+2461T= ENSP00000513247.1:n.480+2461T=
ENST00000697313.1:n.2322T=
ENST00000697314.1:n.2322T=
ENST00000697315.1:c.531T= ENSP00000513248.1:p.Phe177=
ENST00000697316.1:n.652T=
ENST00000697317.1:n.641T=
ENST00000697318.1:n.643T=
ENST00000265433.8:c.531T= MANE Select ENSP00000265433.4:p.Phe177=
ENST00000265433.7:c.531T= ENSP00000265433.3:p.Phe177=
ENST00000396252.6:c.*404T= ENSP00000379551.2:n.*404T=
ENST00000409330.5:c.285T= ENSP00000386924.1:p.Phe95=
ENST00000517772.5:c.285T= ENSP00000428717.1:p.Phe95=
ENST00000519426.5:c.320+3102T= ENSP00000430983.1:n.320+3102T=
NM_001024688.2:c.285T= NP_001019859.1:p.Phe95=
NM_002485.4:c.531T= , LRG_158t1:c.531T= NP_002476.2:p.Phe177=
XM_011517044.1:c.507T= XP_011515346.1:p.Phe169=
XM_011517045.1:c.285T= XP_011515347.1:p.Phe95=
XM_011517046.1:c.531T= XP_011515348.1:p.Phe177=
XR_928335.1:n.668T=
XM_017013460.1:c.-349T= XP_016868949.1:n.-349T=
XM_017013462.2:c.-296+2461T= XP_016868951.1:n.-296+2461T=
XM_024447163.1:c.285T= XP_024302931.1:p.Phe95=
XM_024447164.1:c.285T= XP_024302932.1:p.Phe95=
XM_024447165.1:c.-349T= XP_024302933.1:n.-349T=
NM_002485.5:c.531T= MANE Select NP_002476.2:p.Phe177=
NM_001024688.3:c.285T= NP_001019859.1:p.Phe95=