Canonical Allele Identifier: CA371655803

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90965855A>T (hg19) ; chr8:g.89953627A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953627A>T , CM000670.2:g.89953627A>T	GRCh38
NC_000008.10:g.90965855A>T , CM000670.1:g.90965855A>T	GRCh37
NC_000008.9:g.91035031A>T	NCBI36
NG_008860.1:g.36045T>A , LRG_158:g.36045T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.2764T>A
ENST00000517337.2:c.1216T>A	ENSP00000429971.2:p.Ser406Thr
ENST00000523444.2:c.1216T>A	ENSP00000428252.2:p.Ser406Thr
ENST00000697292.1:c.1462T>A	ENSP00000513229.1:p.Ser488Thr
ENST00000697293.1:c.1462T>A	ENSP00000513230.1:p.Ser488Thr
ENST00000697294.1:c.*1073T>A	ENSP00000513231.1:n.*1073T>A
ENST00000697295.1:c.*771T>A	ENSP00000513232.1:n.*771T>A
ENST00000697296.1:c.*1130T>A	ENSP00000513233.1:n.*1130T>A
ENST00000697297.1:n.3247T>A
ENST00000697298.1:c.1216T>A	ENSP00000513234.1:p.Ser406Thr
ENST00000697299.1:c.1216T>A	ENSP00000513235.1:p.Ser406Thr
ENST00000697300.1:c.*1066T>A	ENSP00000513236.1:n.*1066T>A
ENST00000697301.1:c.*983T>A	ENSP00000513237.1:n.*983T>A
ENST00000697302.1:c.*983T>A	ENSP00000513238.1:n.*983T>A
ENST00000697303.1:c.*1066T>A	ENSP00000513239.1:n.*1066T>A
ENST00000697304.1:c.1150T>A	ENSP00000513240.1:p.Ser384Thr
ENST00000697306.1:c.*462T>A	ENSP00000513241.1:n.*462T>A
ENST00000697307.1:c.1462T>A	ENSP00000513242.1:p.Ser488Thr
ENST00000697308.1:c.1462T>A	ENSP00000513243.1:p.Ser488Thr
ENST00000697309.1:c.1462T>A	ENSP00000513244.1:p.Ser488Thr
ENST00000697310.1:c.1462T>A	ENSP00000513245.1:p.Ser488Thr
ENST00000697311.1:c.1462T>A	ENSP00000513246.1:p.Ser488Thr
ENST00000697312.1:c.*860T>A	ENSP00000513247.1:n.*860T>A
ENST00000697313.1:n.2687+16737T>A
ENST00000697314.1:n.3253T>A
ENST00000697315.1:c.1462T>A	ENSP00000513248.1:p.Ser488Thr
ENST00000697316.1:n.1583T>A
ENST00000697317.1:n.1572T>A
ENST00000697318.1:n.1574T>A
ENST00000265433.8:c.1462T>A MANE Select	ENSP00000265433.4:p.Ser488Thr
ENST00000265433.7:c.1462T>A	ENSP00000265433.3:p.Ser488Thr
ENST00000396252.6:c.*1335T>A	ENSP00000379551.2:n.*1335T>A
ENST00000409330.5:c.1216T>A	ENSP00000386924.1:p.Ser406Thr
NM_001024688.2:c.1216T>A	NP_001019859.1:p.Ser406Thr
NM_002485.4:c.1462T>A , LRG_158t1:c.1462T>A	NP_002476.2:p.Ser488Thr
XM_011517044.1:c.1438T>A	XP_011515346.1:p.Ser480Thr
XM_011517045.1:c.1216T>A	XP_011515347.1:p.Ser406Thr
XR_928335.1:n.1601T>A
XM_017013460.1:c.583T>A	XP_016868949.1:p.Ser195Thr
XM_017013462.2:c.583T>A	XP_016868951.1:p.Ser195Thr
XM_024447163.1:c.1216T>A	XP_024302931.1:p.Ser406Thr
XM_024447164.1:c.1216T>A	XP_024302932.1:p.Ser406Thr
XM_024447165.1:c.583T>A	XP_024302933.1:p.Ser195Thr
NM_002485.5:c.1462T>A MANE Select	NP_002476.2:p.Ser488Thr
NM_001024688.3:c.1216T>A	NP_001019859.1:p.Ser406Thr