Canonical Allele Identifier: CA371674808

Gene: NBN

Linked Data

• dbSNP Id: rs755536922
• MyVariant Identifiers: chr8:g.90949288C>T (hg19) ; chr8:g.89937060C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937060C>T , CM000670.2:g.89937060C>T	GRCh38
NC_000008.10:g.90949288C>T , CM000670.1:g.90949288C>T	GRCh37
NC_000008.9:g.91018464C>T	NCBI36
NG_008860.1:g.52612G>A , LRG_158:g.52612G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3620G>A
ENST00000494804.2:n.3502G>A
ENST00000517337.2:c.1954G>A	ENSP00000429971.2:p.Ala652Thr
ENST00000523444.2:c.1954G>A	ENSP00000428252.2:p.Ala652Thr
ENST00000697292.1:c.2200G>A	ENSP00000513229.1:p.Ala734Thr
ENST00000697293.1:c.2251G>A	ENSP00000513230.1:p.Ala751Thr
ENST00000697294.1:c.*1811G>A	ENSP00000513231.1:n.*1811G>A
ENST00000697295.1:c.*1509G>A	ENSP00000513232.1:n.*1509G>A
ENST00000697296.1:c.*1868G>A	ENSP00000513233.1:n.*1868G>A
ENST00000697297.1:n.3985G>A
ENST00000697298.1:c.1954G>A	ENSP00000513234.1:p.Ala652Thr
ENST00000697299.1:c.1954G>A	ENSP00000513235.1:p.Ala652Thr
ENST00000697300.1:c.*1804G>A	ENSP00000513236.1:n.*1804G>A
ENST00000697301.1:c.*1721G>A	ENSP00000513237.1:n.*1721G>A
ENST00000697302.1:c.*1721G>A	ENSP00000513238.1:n.*1721G>A
ENST00000697303.1:c.*1804G>A	ENSP00000513239.1:n.*1804G>A
ENST00000697304.1:c.1888G>A	ENSP00000513240.1:p.Ala630Thr
ENST00000697305.1:n.2467G>A
ENST00000697306.1:c.*2751G>A	ENSP00000513241.1:n.*2751G>A
ENST00000697307.1:c.1975G>A	ENSP00000513242.1:p.Ala659Thr
ENST00000697308.1:c.2131G>A	ENSP00000513243.1:p.Ala711Thr
ENST00000697309.1:c.2185-1448G>A	ENSP00000513244.1:n.2185-1448G>A
ENST00000697310.1:c.2200G>A	ENSP00000513245.1:p.Ala734Thr
ENST00000697311.1:c.*465G>A	ENSP00000513246.1:n.*465G>A
ENST00000697312.1:c.*1653G>A	ENSP00000513247.1:n.*1653G>A
ENST00000697313.1:n.2688-1448G>A
ENST00000697314.1:n.3637-1448G>A
ENST00000697315.1:c.*104G>A	ENSP00000513248.1:n.*104G>A
ENST00000697316.1:n.2321G>A
ENST00000265433.8:c.2200G>A MANE Select	ENSP00000265433.4:p.Ala734Thr
ENST00000265433.7:c.2200G>A	ENSP00000265433.3:p.Ala734Thr
ENST00000396252.6:c.*2073G>A	ENSP00000379551.2:n.*2073G>A
ENST00000409330.5:c.1954G>A	ENSP00000386924.1:p.Ala652Thr
ENST00000474821.1:n.288G>A
ENST00000613033.1:c.310G>A	ENSP00000484487.1:p.Ala104Thr
NM_001024688.2:c.1954G>A	NP_001019859.1:p.Ala652Thr
NM_002485.4:c.2200G>A , LRG_158t1:c.2200G>A	NP_002476.2:p.Ala734Thr
XM_011517044.1:c.2176G>A	XP_011515346.1:p.Ala726Thr
XM_011517045.1:c.1954G>A	XP_011515347.1:p.Ala652Thr
XM_017013460.1:c.1321G>A	XP_016868949.1:p.Ala441Thr
XM_017013462.2:c.1321G>A	XP_016868951.1:p.Ala441Thr
XM_024447163.1:c.1954G>A	XP_024302931.1:p.Ala652Thr
XM_024447164.1:c.1954G>A	XP_024302932.1:p.Ala652Thr
XM_024447165.1:c.1321G>A	XP_024302933.1:p.Ala441Thr
NM_002485.5:c.2200G>A MANE Select	NP_002476.2:p.Ala734Thr
NM_001024688.3:c.1954G>A	NP_001019859.1:p.Ala652Thr