Canonical Allele Identifier: CA371656194

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89955394T>G , CM000670.2:g.89955394T>G	GRCh38
NC_000008.10:g.90967622T>G , CM000670.1:g.90967622T>G	GRCh37
NC_000008.9:g.91036798T>G	NCBI36
NG_008860.1:g.34278A>C , LRG_158:g.34278A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002485.5:c.1286A>C MANE Select	NP_002476.2:p.Tyr429Ser
ENST00000265433.8:c.1286A>C MANE Select	ENSP00000265433.4:p.Tyr429Ser
NM_001024688.2:c.1040A>C	NP_001019859.1:p.Tyr347Ser
NM_001024688.3:c.1040A>C	NP_001019859.1:p.Tyr347Ser
NM_002485.4:c.1286A>C , LRG_158t1:c.1286A>C	NP_002476.2:p.Tyr429Ser
ENST00000265433.7:c.1286A>C	ENSP00000265433.3:p.Tyr429Ser
ENST00000396252.6:c.*1159A>C	ENSP00000379551.2:n.*1159A>C
ENST00000409330.5:c.1040A>C	ENSP00000386924.1:p.Tyr347Ser
ENST00000494804.2:n.2588A>C
ENST00000517337.2:c.1040A>C	ENSP00000429971.2:p.Tyr347Ser
ENST00000523444.2:c.1040A>C	ENSP00000428252.2:p.Tyr347Ser
ENST00000697292.1:c.1286A>C	ENSP00000513229.1:p.Tyr429Ser
ENST00000697293.1:c.1286A>C	ENSP00000513230.1:p.Tyr429Ser
ENST00000697294.1:c.*897A>C	ENSP00000513231.1:n.*897A>C
ENST00000697295.1:c.*595A>C	ENSP00000513232.1:n.*595A>C
ENST00000697296.1:c.*954A>C	ENSP00000513233.1:n.*954A>C
ENST00000697297.1:n.3071A>C
ENST00000697298.1:c.1040A>C	ENSP00000513234.1:p.Tyr347Ser
ENST00000697299.1:c.1040A>C	ENSP00000513235.1:p.Tyr347Ser
ENST00000697300.1:c.*890A>C	ENSP00000513236.1:n.*890A>C
ENST00000697301.1:c.*807A>C	ENSP00000513237.1:n.*807A>C
ENST00000697302.1:c.*807A>C	ENSP00000513238.1:n.*807A>C
ENST00000697303.1:c.*890A>C	ENSP00000513239.1:n.*890A>C
ENST00000697304.1:c.974A>C	ENSP00000513240.1:p.Tyr325Ser
ENST00000697306.1:c.*286A>C	ENSP00000513241.1:n.*286A>C
ENST00000697307.1:c.1286A>C	ENSP00000513242.1:p.Tyr429Ser
ENST00000697308.1:c.1286A>C	ENSP00000513243.1:p.Tyr429Ser
ENST00000697309.1:c.1286A>C	ENSP00000513244.1:p.Tyr429Ser
ENST00000697310.1:c.1286A>C	ENSP00000513245.1:p.Tyr429Ser
ENST00000697311.1:c.1286A>C	ENSP00000513246.1:p.Tyr429Ser
ENST00000697312.1:c.*684A>C	ENSP00000513247.1:n.*684A>C
ENST00000697313.1:n.2687+14970A>C
ENST00000697314.1:n.3077A>C
ENST00000697315.1:c.1286A>C	ENSP00000513248.1:p.Tyr429Ser
ENST00000697316.1:n.1407A>C
ENST00000697317.1:n.1396A>C
ENST00000697318.1:n.1398A>C
XM_011517044.1:c.1262A>C	XP_011515346.1:p.Tyr421Ser
XM_011517045.1:c.1040A>C	XP_011515347.1:p.Tyr347Ser
XM_011517046.1:c.1286A>C	XP_011515348.1:p.Tyr429Ser
XM_017013460.1:c.407A>C	XP_016868949.1:p.Tyr136Ser
XM_017013462.2:c.407A>C	XP_016868951.1:p.Tyr136Ser
XM_024447163.1:c.1040A>C	XP_024302931.1:p.Tyr347Ser
XM_024447164.1:c.1040A>C	XP_024302932.1:p.Tyr347Ser
XM_024447165.1:c.407A>C	XP_024302933.1:p.Tyr136Ser
XR_928335.1:n.1423A>C