Canonical Allele Identifier: CA461838996

Gene: NBN

Linked Data

• gnomAD v4: 8-89947824-A-T
• MyVariant Identifiers: chr8:g.90960052A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947824A>T , CM000670.2:g.89947824A>T	GRCh38
NC_000008.10:g.90960052A>T , CM000670.1:g.90960052A>T	GRCh37
NC_000008.9:g.91029228A>T	NCBI36
NG_008860.1:g.41848T>A , LRG_158:g.41848T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3216T>A
ENST00000517337.2:c.1668T>A	ENSP00000429971.2:p.Ser556=
ENST00000523444.2:c.1668T>A	ENSP00000428252.2:p.Ser556=
ENST00000697292.1:c.1914T>A	ENSP00000513229.1:p.Ser638=
ENST00000697293.1:c.1914T>A	ENSP00000513230.1:p.Ser638=
ENST00000697294.1:c.*1525T>A	ENSP00000513231.1:n.*1525T>A
ENST00000697295.1:c.*1223T>A	ENSP00000513232.1:n.*1223T>A
ENST00000697296.1:c.*1582T>A	ENSP00000513233.1:n.*1582T>A
ENST00000697297.1:n.3699T>A
ENST00000697298.1:c.1668T>A	ENSP00000513234.1:p.Ser556=
ENST00000697299.1:c.1668T>A	ENSP00000513235.1:p.Ser556=
ENST00000697300.1:c.*1518T>A	ENSP00000513236.1:n.*1518T>A
ENST00000697301.1:c.*1435T>A	ENSP00000513237.1:n.*1435T>A
ENST00000697302.1:c.*1435T>A	ENSP00000513238.1:n.*1435T>A
ENST00000697303.1:c.*1518T>A	ENSP00000513239.1:n.*1518T>A
ENST00000697304.1:c.1602T>A	ENSP00000513240.1:p.Ser534=
ENST00000697306.1:c.*937T>A	ENSP00000513241.1:n.*937T>A
ENST00000697307.1:c.1846-4458T>A	ENSP00000513242.1:n.1846-4458T>A
ENST00000697308.1:c.1846-1529T>A	ENSP00000513243.1:n.1846-1529T>A
ENST00000697309.1:c.1914T>A	ENSP00000513244.1:p.Ser638=
ENST00000697310.1:c.1914T>A	ENSP00000513245.1:p.Ser638=
ENST00000697311.1:c.1914T>A	ENSP00000513246.1:p.Ser638=
ENST00000697312.1:c.*1312T>A	ENSP00000513247.1:n.*1312T>A
ENST00000697313.1:n.2688-12212T>A
ENST00000697314.1:n.3636+5420T>A
ENST00000697315.1:c.1914T>A	ENSP00000513248.1:p.Ser638=
ENST00000697316.1:n.2035T>A
ENST00000697317.1:n.2005+19T>A
ENST00000265433.8:c.1914T>A MANE Select	ENSP00000265433.4:p.Ser638=
ENST00000265433.7:c.1914T>A	ENSP00000265433.3:p.Ser638=
ENST00000396252.6:c.*1787T>A	ENSP00000379551.2:n.*1787T>A
ENST00000409330.5:c.1668T>A	ENSP00000386924.1:p.Ser556=
ENST00000613033.1:c.180T>A	ENSP00000484487.1:p.Ser60=
NM_001024688.2:c.1668T>A	NP_001019859.1:p.Ser556=
NM_002485.4:c.1914T>A , LRG_158t1:c.1914T>A	NP_002476.2:p.Ser638=
XM_011517044.1:c.1890T>A	XP_011515346.1:p.Ser630=
XM_011517045.1:c.1668T>A	XP_011515347.1:p.Ser556=
XR_928335.1:n.2053T>A
XM_017013460.1:c.1035T>A	XP_016868949.1:p.Ser345=
XM_017013462.2:c.1035T>A	XP_016868951.1:p.Ser345=
XM_024447163.1:c.1668T>A	XP_024302931.1:p.Ser556=
XM_024447164.1:c.1668T>A	XP_024302932.1:p.Ser556=
XM_024447165.1:c.1035T>A	XP_024302933.1:p.Ser345=
NM_002485.5:c.1914T>A MANE Select	NP_002476.2:p.Ser638=
NM_001024688.3:c.1668T>A	NP_001019859.1:p.Ser556=