Canonical Allele Identifier: CA1801489544
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89958819G= , CM000670.2:g.89958819G= GRCh38
NC_000008.10:g.90971047G= , CM000670.1:g.90971047G= GRCh37
NC_000008.9:g.91040223G= NCBI36
NG_008860.1:g.30853C= , LRG_158:g.30853C=

Transcript Alleles

HGVS Amino-acid Change
NM_002485.5:c.1030C= MANE Select NP_002476.2:p.Gln344=
ENST00000265433.8:c.1030C= MANE Select ENSP00000265433.4:p.Gln344=
NM_001024688.2:c.784C= NP_001019859.1:p.Gln262=
NM_001024688.3:c.784C= NP_001019859.1:p.Gln262=
NM_002485.4:c.1030C= , LRG_158t1:c.1030C= NP_002476.2:p.Gln344=
ENST00000265433.7:c.1030C= ENSP00000265433.3:p.Gln344=
ENST00000396252.6:c.*903C= ENSP00000379551.2:n.*903C=
ENST00000409330.5:c.784C= ENSP00000386924.1:p.Gln262=
ENST00000494804.2:n.2332C=
ENST00000517337.2:c.784C= ENSP00000429971.2:p.Gln262=
ENST00000523444.2:c.784C= ENSP00000428252.2:p.Gln262=
ENST00000697292.1:c.1030C= ENSP00000513229.1:p.Gln344=
ENST00000697293.1:c.1030C= ENSP00000513230.1:p.Gln344=
ENST00000697294.1:c.*641C= ENSP00000513231.1:n.*641C=
ENST00000697295.1:c.*339C= ENSP00000513232.1:n.*339C=
ENST00000697296.1:c.*698C= ENSP00000513233.1:n.*698C=
ENST00000697297.1:n.2815C=
ENST00000697298.1:c.784C= ENSP00000513234.1:p.Gln262=
ENST00000697299.1:c.784C= ENSP00000513235.1:p.Gln262=
ENST00000697300.1:c.*634C= ENSP00000513236.1:n.*634C=
ENST00000697301.1:c.*551C= ENSP00000513237.1:n.*551C=
ENST00000697302.1:c.*551C= ENSP00000513238.1:n.*551C=
ENST00000697303.1:c.*634C= ENSP00000513239.1:n.*634C=
ENST00000697304.1:c.718C= ENSP00000513240.1:p.Gln240=
ENST00000697306.1:c.*30C= ENSP00000513241.1:n.*30C=
ENST00000697307.1:c.1030C= ENSP00000513242.1:p.Gln344=
ENST00000697308.1:c.1030C= ENSP00000513243.1:p.Gln344=
ENST00000697309.1:c.1030C= ENSP00000513244.1:p.Gln344=
ENST00000697310.1:c.1030C= ENSP00000513245.1:p.Gln344=
ENST00000697311.1:c.1030C= ENSP00000513246.1:p.Gln344=
ENST00000697312.1:c.*428C= ENSP00000513247.1:n.*428C=
ENST00000697313.1:n.2687+11545C=
ENST00000697314.1:n.2821C=
ENST00000697315.1:c.1030C= ENSP00000513248.1:p.Gln344=
ENST00000697316.1:n.1151C=
ENST00000697317.1:n.1140C=
ENST00000697318.1:n.1142C=
XM_011517044.1:c.1006C= XP_011515346.1:p.Gln336=
XM_011517045.1:c.784C= XP_011515347.1:p.Gln262=
XM_011517046.1:c.1030C= XP_011515348.1:p.Gln344=
XM_017013460.1:c.151C= XP_016868949.1:p.Gln51=
XM_017013462.2:c.151C= XP_016868951.1:p.Gln51=
XM_024447163.1:c.784C= XP_024302931.1:p.Gln262=
XM_024447164.1:c.784C= XP_024302932.1:p.Gln262=
XM_024447165.1:c.151C= XP_024302933.1:p.Gln51=
XR_928335.1:n.1167C=