Canonical Allele Identifier: CA1801419475
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89946147A= , CM000670.2:g.89946147A= GRCh38
NC_000008.10:g.90958375A= , CM000670.1:g.90958375A= GRCh37
NC_000008.9:g.91027551A= NCBI36
NG_008860.1:g.43525T= , LRG_158:g.43525T=

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.3365T=
ENST00000517337.2:c.1817T= ENSP00000429971.2:p.Phe606=
ENST00000523444.2:c.1817T= ENSP00000428252.2:p.Phe606=
ENST00000697292.1:c.2063T= ENSP00000513229.1:p.Phe688=
ENST00000697293.1:c.2063T= ENSP00000513230.1:p.Phe688=
ENST00000697294.1:c.*1674T= ENSP00000513231.1:n.*1674T=
ENST00000697295.1:c.*1372T= ENSP00000513232.1:n.*1372T=
ENST00000697296.1:c.*1731T= ENSP00000513233.1:n.*1731T=
ENST00000697297.1:n.3848T=
ENST00000697298.1:c.1817T= ENSP00000513234.1:p.Phe606=
ENST00000697299.1:c.1817T= ENSP00000513235.1:p.Phe606=
ENST00000697300.1:c.*1667T= ENSP00000513236.1:n.*1667T=
ENST00000697301.1:c.*1584T= ENSP00000513237.1:n.*1584T=
ENST00000697302.1:c.*1584T= ENSP00000513238.1:n.*1584T=
ENST00000697303.1:c.*1667T= ENSP00000513239.1:n.*1667T=
ENST00000697304.1:c.1751T= ENSP00000513240.1:p.Phe584=
ENST00000697306.1:c.*2614T= ENSP00000513241.1:n.*2614T=
ENST00000697307.1:c.1846-2781T= ENSP00000513242.1:n.1846-2781T=
ENST00000697308.1:c.1994T= ENSP00000513243.1:p.Phe665=
ENST00000697309.1:c.2063T= ENSP00000513244.1:p.Phe688=
ENST00000697310.1:c.2063T= ENSP00000513245.1:p.Phe688=
ENST00000697311.1:c.2063T= ENSP00000513246.1:p.Phe688=
ENST00000697312.1:c.*1461T= ENSP00000513247.1:n.*1461T=
ENST00000697313.1:n.2688-10535T=
ENST00000697314.1:n.3636+7097T=
ENST00000697315.1:c.2063T= ENSP00000513248.1:p.Phe688=
ENST00000697316.1:n.2184T=
ENST00000697317.1:n.2154T=
ENST00000265433.8:c.2063T= MANE Select ENSP00000265433.4:p.Phe688=
ENST00000265433.7:c.2063T= ENSP00000265433.3:p.Phe688=
ENST00000396252.6:c.*1936T= ENSP00000379551.2:n.*1936T=
ENST00000409330.5:c.1817T= ENSP00000386924.1:p.Phe606=
ENST00000520325.1:n.479T=
ENST00000613033.1:c.180+1677T= ENSP00000484487.1:n.180+1677T=
NM_001024688.2:c.1817T= NP_001019859.1:p.Phe606=
NM_002485.4:c.2063T= , LRG_158t1:c.2063T= NP_002476.2:p.Phe688=
XM_011517044.1:c.2039T= XP_011515346.1:p.Phe680=
XM_011517045.1:c.1817T= XP_011515347.1:p.Phe606=
XM_017013460.1:c.1184T= XP_016868949.1:p.Phe395=
XM_017013462.2:c.1184T= XP_016868951.1:p.Phe395=
XM_024447163.1:c.1817T= XP_024302931.1:p.Phe606=
XM_024447164.1:c.1817T= XP_024302932.1:p.Phe606=
XM_024447165.1:c.1184T= XP_024302933.1:p.Phe395=
NM_002485.5:c.2063T= MANE Select NP_002476.2:p.Phe688=
NM_001024688.3:c.1817T= NP_001019859.1:p.Phe606=