Canonical Allele Identifier: CA1801505262
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89970387C= , CM000670.2:g.89970387C= GRCh38
NC_000008.10:g.90982615C= , CM000670.1:g.90982615C= GRCh37
NC_000008.9:g.91051791C= NCBI36
NG_008860.1:g.19285G= , LRG_158:g.19285G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.2175G=
ENST00000517337.2:c.627G= ENSP00000429971.2:p.Gln209=
ENST00000523444.2:c.627G= ENSP00000428252.2:p.Gln209=
ENST00000697292.1:c.873G= ENSP00000513229.1:p.Gln291=
ENST00000697293.1:c.873G= ENSP00000513230.1:p.Gln291=
ENST00000697294.1:c.*484G= ENSP00000513231.1:n.*484G=
ENST00000697295.1:c.*182G= ENSP00000513232.1:n.*182G=
ENST00000697296.1:c.*541G= ENSP00000513233.1:n.*541G=
ENST00000697297.1:n.2658G=
ENST00000697298.1:c.627G= ENSP00000513234.1:p.Gln209=
ENST00000697299.1:c.627G= ENSP00000513235.1:p.Gln209=
ENST00000697300.1:c.*477G= ENSP00000513236.1:n.*477G=
ENST00000697301.1:c.*394G= ENSP00000513237.1:n.*394G=
ENST00000697302.1:c.*394G= ENSP00000513238.1:n.*394G=
ENST00000697303.1:c.*477G= ENSP00000513239.1:n.*477G=
ENST00000697304.1:c.585-5880G= ENSP00000513240.1:n.585-5880G=
ENST00000697306.1:c.480+10347G= ENSP00000513241.1:n.480+10347G=
ENST00000697307.1:c.873G= ENSP00000513242.1:p.Gln291=
ENST00000697308.1:c.873G= ENSP00000513243.1:p.Gln291=
ENST00000697309.1:c.873G= ENSP00000513244.1:p.Gln291=
ENST00000697310.1:c.873G= ENSP00000513245.1:p.Gln291=
ENST00000697311.1:c.873G= ENSP00000513246.1:p.Gln291=
ENST00000697312.1:c.*271G= ENSP00000513247.1:n.*271G=
ENST00000697313.1:n.2664G=
ENST00000697314.1:n.2664G=
ENST00000697315.1:c.873G= ENSP00000513248.1:p.Gln291=
ENST00000697316.1:n.994G=
ENST00000697317.1:n.983G=
ENST00000697318.1:n.985G=
ENST00000265433.8:c.873G= MANE Select ENSP00000265433.4:p.Gln291=
ENST00000265433.7:c.873G= ENSP00000265433.3:p.Gln291=
ENST00000396252.6:c.*746G= ENSP00000379551.2:n.*746G=
ENST00000409330.5:c.627G= ENSP00000386924.1:p.Gln209=
NM_001024688.2:c.627G= NP_001019859.1:p.Gln209=
NM_002485.4:c.873G= , LRG_158t1:c.873G= NP_002476.2:p.Gln291=
XM_011517044.1:c.849G= XP_011515346.1:p.Gln283=
XM_011517045.1:c.627G= XP_011515347.1:p.Gln209=
XM_011517046.1:c.873G= XP_011515348.1:p.Gln291=
XR_928335.1:n.1010G=
XM_017013460.1:c.-7G= XP_016868949.1:n.-7G=
XM_017013462.2:c.-7G= XP_016868951.1:n.-7G=
XM_024447163.1:c.627G= XP_024302931.1:p.Gln209=
XM_024447164.1:c.627G= XP_024302932.1:p.Gln209=
XM_024447165.1:c.-7G= XP_024302933.1:n.-7G=
NM_002485.5:c.873G= MANE Select NP_002476.2:p.Gln291=
NM_001024688.3:c.627G= NP_001019859.1:p.Gln209=