Canonical Allele Identifier: CA371656899

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90976660A>T (hg19) ; chr8:g.89964432A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89964432A>T , CM000670.2:g.89964432A>T	GRCh38
NC_000008.10:g.90976660A>T , CM000670.1:g.90976660A>T	GRCh37
NC_000008.9:g.91045836A>T	NCBI36
NG_008860.1:g.25240T>A , LRG_158:g.25240T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.2274T>A
ENST00000517337.2:c.726T>A	ENSP00000429971.2:p.Asp242Glu
ENST00000523444.2:c.726T>A	ENSP00000428252.2:p.Asp242Glu
ENST00000697292.1:c.972T>A	ENSP00000513229.1:p.Asp324Glu
ENST00000697293.1:c.972T>A	ENSP00000513230.1:p.Asp324Glu
ENST00000697294.1:c.*583T>A	ENSP00000513231.1:n.*583T>A
ENST00000697295.1:c.*281T>A	ENSP00000513232.1:n.*281T>A
ENST00000697296.1:c.*640T>A	ENSP00000513233.1:n.*640T>A
ENST00000697297.1:n.2757T>A
ENST00000697298.1:c.726T>A	ENSP00000513234.1:p.Asp242Glu
ENST00000697299.1:c.726T>A	ENSP00000513235.1:p.Asp242Glu
ENST00000697300.1:c.*576T>A	ENSP00000513236.1:n.*576T>A
ENST00000697301.1:c.*493T>A	ENSP00000513237.1:n.*493T>A
ENST00000697302.1:c.*493T>A	ENSP00000513238.1:n.*493T>A
ENST00000697303.1:c.*576T>A	ENSP00000513239.1:n.*576T>A
ENST00000697304.1:c.660T>A	ENSP00000513240.1:p.Asp220Glu
ENST00000697306.1:c.481-5578T>A	ENSP00000513241.1:n.481-5578T>A
ENST00000697307.1:c.972T>A	ENSP00000513242.1:p.Asp324Glu
ENST00000697308.1:c.972T>A	ENSP00000513243.1:p.Asp324Glu
ENST00000697309.1:c.972T>A	ENSP00000513244.1:p.Asp324Glu
ENST00000697310.1:c.972T>A	ENSP00000513245.1:p.Asp324Glu
ENST00000697311.1:c.972T>A	ENSP00000513246.1:p.Asp324Glu
ENST00000697312.1:c.*370T>A	ENSP00000513247.1:n.*370T>A
ENST00000697313.1:n.2687+5932T>A
ENST00000697314.1:n.2763T>A
ENST00000697315.1:c.972T>A	ENSP00000513248.1:p.Asp324Glu
ENST00000697316.1:n.1093T>A
ENST00000697317.1:n.1082T>A
ENST00000697318.1:n.1084T>A
ENST00000265433.8:c.972T>A MANE Select	ENSP00000265433.4:p.Asp324Glu
ENST00000265433.7:c.972T>A	ENSP00000265433.3:p.Asp324Glu
ENST00000396252.6:c.*845T>A	ENSP00000379551.2:n.*845T>A
ENST00000409330.5:c.726T>A	ENSP00000386924.1:p.Asp242Glu
NM_001024688.2:c.726T>A	NP_001019859.1:p.Asp242Glu
NM_002485.4:c.972T>A , LRG_158t1:c.972T>A	NP_002476.2:p.Asp324Glu
XM_011517044.1:c.948T>A	XP_011515346.1:p.Asp316Glu
XM_011517045.1:c.726T>A	XP_011515347.1:p.Asp242Glu
XM_011517046.1:c.972T>A	XP_011515348.1:p.Asp324Glu
XR_928335.1:n.1109T>A
XM_017013460.1:c.93T>A	XP_016868949.1:p.Asp31Glu
XM_017013462.2:c.93T>A	XP_016868951.1:p.Asp31Glu
XM_024447163.1:c.726T>A	XP_024302931.1:p.Asp242Glu
XM_024447164.1:c.726T>A	XP_024302932.1:p.Asp242Glu
XM_024447165.1:c.93T>A	XP_024302933.1:p.Asp31Glu
NM_002485.5:c.972T>A MANE Select	NP_002476.2:p.Asp324Glu
NM_001024688.3:c.726T>A	NP_001019859.1:p.Asp242Glu