Canonical Allele Identifier: CA371674782

Gene: NBN

Linked Data

• dbSNP Id: rs2130739230
• MyVariant Identifiers: chr8:g.90949276A>T (hg19) ; chr8:g.89937048A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937048A>T , CM000670.2:g.89937048A>T	GRCh38
NC_000008.10:g.90949276A>T , CM000670.1:g.90949276A>T	GRCh37
NC_000008.9:g.91018452A>T	NCBI36
NG_008860.1:g.52624T>A , LRG_158:g.52624T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3632T>A
ENST00000494804.2:n.3514T>A
ENST00000517337.2:c.1966T>A	ENSP00000429971.2:p.Ser656Thr
ENST00000523444.2:c.1966T>A	ENSP00000428252.2:p.Ser656Thr
ENST00000697292.1:c.2212T>A	ENSP00000513229.1:p.Ser738Thr
ENST00000697293.1:c.2263T>A	ENSP00000513230.1:p.Ser755Thr
ENST00000697294.1:c.*1823T>A	ENSP00000513231.1:n.*1823T>A
ENST00000697295.1:c.*1521T>A	ENSP00000513232.1:n.*1521T>A
ENST00000697296.1:c.*1880T>A	ENSP00000513233.1:n.*1880T>A
ENST00000697297.1:n.3997T>A
ENST00000697298.1:c.1966T>A	ENSP00000513234.1:p.Ser656Thr
ENST00000697299.1:c.1966T>A	ENSP00000513235.1:p.Ser656Thr
ENST00000697300.1:c.*1816T>A	ENSP00000513236.1:n.*1816T>A
ENST00000697301.1:c.*1733T>A	ENSP00000513237.1:n.*1733T>A
ENST00000697302.1:c.*1733T>A	ENSP00000513238.1:n.*1733T>A
ENST00000697303.1:c.*1816T>A	ENSP00000513239.1:n.*1816T>A
ENST00000697304.1:c.1900T>A	ENSP00000513240.1:p.Ser634Thr
ENST00000697305.1:n.2479T>A
ENST00000697306.1:c.*2763T>A	ENSP00000513241.1:n.*2763T>A
ENST00000697307.1:c.1987T>A	ENSP00000513242.1:p.Ser663Thr
ENST00000697308.1:c.2143T>A	ENSP00000513243.1:p.Ser715Thr
ENST00000697309.1:c.2185-1436T>A	ENSP00000513244.1:n.2185-1436T>A
ENST00000697310.1:c.2212T>A	ENSP00000513245.1:p.Ser738Thr
ENST00000697311.1:c.*477T>A	ENSP00000513246.1:n.*477T>A
ENST00000697312.1:c.*1665T>A	ENSP00000513247.1:n.*1665T>A
ENST00000697313.1:n.2688-1436T>A
ENST00000697314.1:n.3637-1436T>A
ENST00000697315.1:c.*116T>A	ENSP00000513248.1:n.*116T>A
ENST00000697316.1:n.2333T>A
ENST00000265433.8:c.2212T>A MANE Select	ENSP00000265433.4:p.Ser738Thr
ENST00000265433.7:c.2212T>A	ENSP00000265433.3:p.Ser738Thr
ENST00000396252.6:c.*2085T>A	ENSP00000379551.2:n.*2085T>A
ENST00000409330.5:c.1966T>A	ENSP00000386924.1:p.Ser656Thr
ENST00000474821.1:n.300T>A
ENST00000613033.1:c.322T>A	ENSP00000484487.1:p.Ser108Thr
NM_001024688.2:c.1966T>A	NP_001019859.1:p.Ser656Thr
NM_002485.4:c.2212T>A , LRG_158t1:c.2212T>A	NP_002476.2:p.Ser738Thr
XM_011517044.1:c.2188T>A	XP_011515346.1:p.Ser730Thr
XM_011517045.1:c.1966T>A	XP_011515347.1:p.Ser656Thr
XM_017013460.1:c.1333T>A	XP_016868949.1:p.Ser445Thr
XM_017013462.2:c.1333T>A	XP_016868951.1:p.Ser445Thr
XM_024447163.1:c.1966T>A	XP_024302931.1:p.Ser656Thr
XM_024447164.1:c.1966T>A	XP_024302932.1:p.Ser656Thr
XM_024447165.1:c.1333T>A	XP_024302933.1:p.Ser445Thr
NM_002485.5:c.2212T>A MANE Select	NP_002476.2:p.Ser738Thr
NM_001024688.3:c.1966T>A	NP_001019859.1:p.Ser656Thr