Canonical Allele Identifier: CA371655039

Gene: NBN

Linked Data

• gnomAD v4: 8-89953278-C-T
• MyVariant Identifiers: chr8:g.90965506C>T (hg19) ; chr8:g.89953278C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953278C>T , CM000670.2:g.89953278C>T	GRCh38
NC_000008.10:g.90965506C>T , CM000670.1:g.90965506C>T	GRCh37
NC_000008.9:g.91034682C>T	NCBI36
NG_008860.1:g.36394G>A , LRG_158:g.36394G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3113G>A
ENST00000517337.2:c.1565G>A	ENSP00000429971.2:p.Ser522Asn
ENST00000523444.2:c.1565G>A	ENSP00000428252.2:p.Ser522Asn
ENST00000697292.1:c.1811G>A	ENSP00000513229.1:p.Ser604Asn
ENST00000697293.1:c.1811G>A	ENSP00000513230.1:p.Ser604Asn
ENST00000697294.1:c.*1422G>A	ENSP00000513231.1:n.*1422G>A
ENST00000697295.1:c.*1120G>A	ENSP00000513232.1:n.*1120G>A
ENST00000697296.1:c.*1479G>A	ENSP00000513233.1:n.*1479G>A
ENST00000697297.1:n.3596G>A
ENST00000697298.1:c.1565G>A	ENSP00000513234.1:p.Ser522Asn
ENST00000697299.1:c.1565G>A	ENSP00000513235.1:p.Ser522Asn
ENST00000697300.1:c.*1415G>A	ENSP00000513236.1:n.*1415G>A
ENST00000697301.1:c.*1332G>A	ENSP00000513237.1:n.*1332G>A
ENST00000697302.1:c.*1332G>A	ENSP00000513238.1:n.*1332G>A
ENST00000697303.1:c.*1415G>A	ENSP00000513239.1:n.*1415G>A
ENST00000697304.1:c.1499G>A	ENSP00000513240.1:p.Ser500Asn
ENST00000697306.1:c.*811G>A	ENSP00000513241.1:n.*811G>A
ENST00000697307.1:c.1811G>A	ENSP00000513242.1:p.Ser604Asn
ENST00000697308.1:c.1811G>A	ENSP00000513243.1:p.Ser604Asn
ENST00000697309.1:c.1811G>A	ENSP00000513244.1:p.Ser604Asn
ENST00000697310.1:c.1811G>A	ENSP00000513245.1:p.Ser604Asn
ENST00000697311.1:c.1811G>A	ENSP00000513246.1:p.Ser604Asn
ENST00000697312.1:c.*1209G>A	ENSP00000513247.1:n.*1209G>A
ENST00000697313.1:n.2687+17086G>A
ENST00000697314.1:n.3602G>A
ENST00000697315.1:c.1811G>A	ENSP00000513248.1:p.Ser604Asn
ENST00000697316.1:n.1932G>A
ENST00000697317.1:n.1921G>A
ENST00000697318.1:n.1923G>A
ENST00000265433.8:c.1811G>A MANE Select	ENSP00000265433.4:p.Ser604Asn
ENST00000265433.7:c.1811G>A	ENSP00000265433.3:p.Ser604Asn
ENST00000396252.6:c.*1684G>A	ENSP00000379551.2:n.*1684G>A
ENST00000409330.5:c.1565G>A	ENSP00000386924.1:p.Ser522Asn
ENST00000613033.1:c.77G>A	ENSP00000484487.1:p.Ser26Asn
NM_001024688.2:c.1565G>A	NP_001019859.1:p.Ser522Asn
NM_002485.4:c.1811G>A , LRG_158t1:c.1811G>A	NP_002476.2:p.Ser604Asn
XM_011517044.1:c.1787G>A	XP_011515346.1:p.Ser596Asn
XM_011517045.1:c.1565G>A	XP_011515347.1:p.Ser522Asn
XR_928335.1:n.1950G>A
XM_017013460.1:c.932G>A	XP_016868949.1:p.Ser311Asn
XM_017013462.2:c.932G>A	XP_016868951.1:p.Ser311Asn
XM_024447163.1:c.1565G>A	XP_024302931.1:p.Ser522Asn
XM_024447164.1:c.1565G>A	XP_024302932.1:p.Ser522Asn
XM_024447165.1:c.932G>A	XP_024302933.1:p.Ser311Asn
NM_002485.5:c.1811G>A MANE Select	NP_002476.2:p.Ser604Asn
NM_001024688.3:c.1565G>A	NP_001019859.1:p.Ser522Asn