Canonical Allele Identifier: CA371675305

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89943264G>A , CM000670.2:g.89943264G>A	GRCh38
NC_000008.10:g.90955492G>A , CM000670.1:g.90955492G>A	GRCh37
NC_000008.9:g.91024668G>A	NCBI36
NG_008860.1:g.46408C>T , LRG_158:g.46408C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002485.5:c.2173C>T MANE Select	NP_002476.2:p.Gln725Ter
ENST00000265433.8:c.2173C>T MANE Select	ENSP00000265433.4:p.Gln725Ter
NM_001024688.2:c.1927C>T	NP_001019859.1:p.Gln643Ter
NM_001024688.3:c.1927C>T	NP_001019859.1:p.Gln643Ter
NM_002485.4:c.2173C>T , LRG_158t1:c.2173C>T	NP_002476.2:p.Gln725Ter
ENST00000265433.7:c.2173C>T	ENSP00000265433.3:p.Gln725Ter
ENST00000396252.6:c.*2046C>T	ENSP00000379551.2:n.*2046C>T
ENST00000409330.5:c.1927C>T	ENSP00000386924.1:p.Gln643Ter
ENST00000494804.2:n.3475C>T
ENST00000517337.2:c.1927C>T	ENSP00000429971.2:p.Gln643Ter
ENST00000523444.2:c.1927C>T	ENSP00000428252.2:p.Gln643Ter
ENST00000613033.1:c.283C>T	ENSP00000484487.1:p.Gln95Ter
ENST00000697292.1:c.2173C>T	ENSP00000513229.1:p.Gln725Ter
ENST00000697293.1:c.2173C>T	ENSP00000513230.1:p.Gln725Ter
ENST00000697294.1:c.*1784C>T	ENSP00000513231.1:n.*1784C>T
ENST00000697295.1:c.*1482C>T	ENSP00000513232.1:n.*1482C>T
ENST00000697296.1:c.*1841C>T	ENSP00000513233.1:n.*1841C>T
ENST00000697297.1:n.3958C>T
ENST00000697298.1:c.1927C>T	ENSP00000513234.1:p.Gln643Ter
ENST00000697299.1:c.1927C>T	ENSP00000513235.1:p.Gln643Ter
ENST00000697300.1:c.*1777C>T	ENSP00000513236.1:n.*1777C>T
ENST00000697301.1:c.*1694C>T	ENSP00000513237.1:n.*1694C>T
ENST00000697302.1:c.*1694C>T	ENSP00000513238.1:n.*1694C>T
ENST00000697303.1:c.*1777C>T	ENSP00000513239.1:n.*1777C>T
ENST00000697304.1:c.1861C>T	ENSP00000513240.1:p.Gln621Ter
ENST00000697305.1:n.2440C>T
ENST00000697306.1:c.*2724C>T	ENSP00000513241.1:n.*2724C>T
ENST00000697307.1:c.1948C>T	ENSP00000513242.1:p.Gln650Ter
ENST00000697308.1:c.2104C>T	ENSP00000513243.1:p.Gln702Ter
ENST00000697309.1:c.2173C>T	ENSP00000513244.1:p.Gln725Ter
ENST00000697310.1:c.2173C>T	ENSP00000513245.1:p.Gln725Ter
ENST00000697311.1:c.2173C>T	ENSP00000513246.1:p.Gln725Ter
ENST00000697312.1:c.*1571C>T	ENSP00000513247.1:n.*1571C>T
ENST00000697313.1:n.2688-7652C>T
ENST00000697314.1:n.3637-7652C>T
ENST00000697315.1:c.2173C>T	ENSP00000513248.1:p.Gln725Ter
ENST00000697316.1:n.2294C>T
XM_011517044.1:c.2149C>T	XP_011515346.1:p.Gln717Ter
XM_011517045.1:c.1927C>T	XP_011515347.1:p.Gln643Ter
XM_017013460.1:c.1294C>T	XP_016868949.1:p.Gln432Ter
XM_017013462.2:c.1294C>T	XP_016868951.1:p.Gln432Ter
XM_024447163.1:c.1927C>T	XP_024302931.1:p.Gln643Ter
XM_024447164.1:c.1927C>T	XP_024302932.1:p.Gln643Ter
XM_024447165.1:c.1294C>T	XP_024302933.1:p.Gln432Ter