Canonical Allele Identifier: CA1801520441

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89980783G= , CM000670.2:g.89980783G=	GRCh38
NC_000008.10:g.90993011G= , CM000670.1:g.90993011G=	GRCh37
NC_000008.9:g.91062187G=	NCBI36
NG_008860.1:g.8889C= , LRG_158:g.8889C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1733C=
ENST00000517337.2:c.185C=	ENSP00000429971.2:p.Thr62=
ENST00000523444.2:c.185C=	ENSP00000428252.2:p.Thr62=
ENST00000697292.1:c.431C=	ENSP00000513229.1:p.Thr144=
ENST00000697293.1:c.431C=	ENSP00000513230.1:p.Thr144=
ENST00000697294.1:c.390C=	ENSP00000513231.1:p.Asp130=
ENST00000697295.1:c.37+3742C=	ENSP00000513232.1:n.37+3742C=
ENST00000697296.1:c.*99C=	ENSP00000513233.1:n.*99C=
ENST00000697297.1:n.2216C=
ENST00000697298.1:c.185C=	ENSP00000513234.1:p.Thr62=
ENST00000697299.1:c.185C=	ENSP00000513235.1:p.Thr62=
ENST00000697300.1:c.185C=	ENSP00000513236.1:p.Thr62=
ENST00000697301.1:c.144C=	ENSP00000513237.1:p.Asp48=
ENST00000697302.1:c.390C=	ENSP00000513238.1:p.Asp130=
ENST00000697303.1:c.431C=	ENSP00000513239.1:p.Thr144=
ENST00000697304.1:c.431C=	ENSP00000513240.1:p.Thr144=
ENST00000697306.1:c.431C=	ENSP00000513241.1:p.Thr144=
ENST00000697307.1:c.431C=	ENSP00000513242.1:p.Thr144=
ENST00000697308.1:c.431C=	ENSP00000513243.1:p.Thr144=
ENST00000697309.1:c.431C=	ENSP00000513244.1:p.Thr144=
ENST00000697310.1:c.431C=	ENSP00000513245.1:p.Thr144=
ENST00000697311.1:c.431C=	ENSP00000513246.1:p.Thr144=
ENST00000697312.1:c.431C=	ENSP00000513247.1:p.Thr144=
ENST00000697313.1:n.2222C=
ENST00000697314.1:n.2222C=
ENST00000697315.1:c.431C=	ENSP00000513248.1:p.Thr144=
ENST00000697316.1:n.552C=
ENST00000697317.1:n.541C=
ENST00000697318.1:n.543C=
ENST00000265433.8:c.431C= MANE Select	ENSP00000265433.4:p.Thr144=
ENST00000265433.7:c.431C=	ENSP00000265433.3:p.Thr144=
ENST00000396252.6:c.*304C=	ENSP00000379551.2:n.*304C=
ENST00000409330.5:c.185C=	ENSP00000386924.1:p.Thr62=
ENST00000517337.1:c.185C=	ENSP00000429971.1:p.Thr62=
ENST00000517772.5:c.185C=	ENSP00000428717.1:p.Thr62=
ENST00000519426.5:c.320+592C=	ENSP00000430983.1:n.320+592C=
ENST00000523444.1:c.*263C=	ENSP00000428252.1:n.*263C=
NM_001024688.2:c.185C=	NP_001019859.1:p.Thr62=
NM_002485.4:c.431C= , LRG_158t1:c.431C=	NP_002476.2:p.Thr144=
XM_011517044.1:c.407C=	XP_011515346.1:p.Thr136=
XM_011517045.1:c.185C=	XP_011515347.1:p.Thr62=
XM_011517046.1:c.431C=	XP_011515348.1:p.Thr144=
XR_928335.1:n.568C=
XM_017013460.1:c.-539C=	XP_016868949.1:n.-539C=
XM_017013462.2:c.-345C=	XP_016868951.1:n.-345C=
XM_024447163.1:c.185C=	XP_024302931.1:p.Thr62=
XM_024447164.1:c.185C=	XP_024302932.1:p.Thr62=
XM_024447165.1:c.-539C=	XP_024302933.1:n.-539C=
NM_002485.5:c.431C= MANE Select	NP_002476.2:p.Thr144=
NM_001024688.3:c.185C=	NP_001019859.1:p.Thr62=