Canonical Allele Identifier: CA371656686

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89958785C>T , CM000670.2:g.89958785C>T	GRCh38
NC_000008.10:g.90971013C>T , CM000670.1:g.90971013C>T	GRCh37
NC_000008.9:g.91040189C>T	NCBI36
NG_008860.1:g.30887G>A , LRG_158:g.30887G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2366G>A
ENST00000517337.2:c.818G>A	ENSP00000429971.2:p.Ser273Asn
ENST00000523444.2:c.818G>A	ENSP00000428252.2:p.Ser273Asn
ENST00000697292.1:c.1064G>A	ENSP00000513229.1:p.Ser355Asn
ENST00000697293.1:c.1064G>A	ENSP00000513230.1:p.Ser355Asn
ENST00000697294.1:c.*675G>A	ENSP00000513231.1:n.*675G>A
ENST00000697295.1:c.*373G>A	ENSP00000513232.1:n.*373G>A
ENST00000697296.1:c.*732G>A	ENSP00000513233.1:n.*732G>A
ENST00000697297.1:n.2849G>A
ENST00000697298.1:c.818G>A	ENSP00000513234.1:p.Ser273Asn
ENST00000697299.1:c.818G>A	ENSP00000513235.1:p.Ser273Asn
ENST00000697300.1:c.*668G>A	ENSP00000513236.1:n.*668G>A
ENST00000697301.1:c.*585G>A	ENSP00000513237.1:n.*585G>A
ENST00000697302.1:c.*585G>A	ENSP00000513238.1:n.*585G>A
ENST00000697303.1:c.*668G>A	ENSP00000513239.1:n.*668G>A
ENST00000697304.1:c.752G>A	ENSP00000513240.1:p.Ser251Asn
ENST00000697306.1:c.*64G>A	ENSP00000513241.1:n.*64G>A
ENST00000697307.1:c.1064G>A	ENSP00000513242.1:p.Ser355Asn
ENST00000697308.1:c.1064G>A	ENSP00000513243.1:p.Ser355Asn
ENST00000697309.1:c.1064G>A	ENSP00000513244.1:p.Ser355Asn
ENST00000697310.1:c.1064G>A	ENSP00000513245.1:p.Ser355Asn
ENST00000697311.1:c.1064G>A	ENSP00000513246.1:p.Ser355Asn
ENST00000697312.1:c.*462G>A	ENSP00000513247.1:n.*462G>A
ENST00000697313.1:n.2687+11579G>A
ENST00000697314.1:n.2855G>A
ENST00000697315.1:c.1064G>A	ENSP00000513248.1:p.Ser355Asn
ENST00000697316.1:n.1185G>A
ENST00000697317.1:n.1174G>A
ENST00000697318.1:n.1176G>A
ENST00000265433.8:c.1064G>A MANE Select	ENSP00000265433.4:p.Ser355Asn
ENST00000265433.7:c.1064G>A	ENSP00000265433.3:p.Ser355Asn
ENST00000396252.6:c.*937G>A	ENSP00000379551.2:n.*937G>A
ENST00000409330.5:c.818G>A	ENSP00000386924.1:p.Ser273Asn
NM_001024688.2:c.818G>A	NP_001019859.1:p.Ser273Asn
NM_002485.4:c.1064G>A , LRG_158t1:c.1064G>A	NP_002476.2:p.Ser355Asn
XM_011517044.1:c.1040G>A	XP_011515346.1:p.Ser347Asn
XM_011517045.1:c.818G>A	XP_011515347.1:p.Ser273Asn
XM_011517046.1:c.1064G>A	XP_011515348.1:p.Ser355Asn
XR_928335.1:n.1201G>A
XM_017013460.1:c.185G>A	XP_016868949.1:p.Ser62Asn
XM_017013462.2:c.185G>A	XP_016868951.1:p.Ser62Asn
XM_024447163.1:c.818G>A	XP_024302931.1:p.Ser273Asn
XM_024447164.1:c.818G>A	XP_024302932.1:p.Ser273Asn
XM_024447165.1:c.185G>A	XP_024302933.1:p.Ser62Asn
NM_002485.5:c.1064G>A MANE Select	NP_002476.2:p.Ser355Asn
NM_001024688.3:c.818G>A	NP_001019859.1:p.Ser273Asn