Canonical Allele Identifier: CA371674760

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90949265A>T (hg19) ; chr8:g.89937037A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937037A>T , CM000670.2:g.89937037A>T	GRCh38
NC_000008.10:g.90949265A>T , CM000670.1:g.90949265A>T	GRCh37
NC_000008.9:g.91018441A>T	NCBI36
NG_008860.1:g.52635T>A , LRG_158:g.52635T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3643T>A
ENST00000494804.2:n.3525T>A
ENST00000517337.2:c.1977T>A	ENSP00000429971.2:p.Asp659Glu
ENST00000523444.2:c.1977T>A	ENSP00000428252.2:p.Asp659Glu
ENST00000697292.1:c.2223T>A	ENSP00000513229.1:p.Asp741Glu
ENST00000697293.1:c.2274T>A	ENSP00000513230.1:p.Asp758Glu
ENST00000697294.1:c.*1834T>A	ENSP00000513231.1:n.*1834T>A
ENST00000697295.1:c.*1532T>A	ENSP00000513232.1:n.*1532T>A
ENST00000697296.1:c.*1891T>A	ENSP00000513233.1:n.*1891T>A
ENST00000697297.1:n.4008T>A
ENST00000697298.1:c.1977T>A	ENSP00000513234.1:p.Asp659Glu
ENST00000697299.1:c.1977T>A	ENSP00000513235.1:p.Asp659Glu
ENST00000697300.1:c.*1827T>A	ENSP00000513236.1:n.*1827T>A
ENST00000697301.1:c.*1744T>A	ENSP00000513237.1:n.*1744T>A
ENST00000697302.1:c.*1744T>A	ENSP00000513238.1:n.*1744T>A
ENST00000697303.1:c.*1827T>A	ENSP00000513239.1:n.*1827T>A
ENST00000697304.1:c.1911T>A	ENSP00000513240.1:p.Asp637Glu
ENST00000697305.1:n.2490T>A
ENST00000697306.1:c.*2774T>A	ENSP00000513241.1:n.*2774T>A
ENST00000697307.1:c.1998T>A	ENSP00000513242.1:p.Asp666Glu
ENST00000697308.1:c.2154T>A	ENSP00000513243.1:p.Asp718Glu
ENST00000697309.1:c.2185-1425T>A	ENSP00000513244.1:n.2185-1425T>A
ENST00000697310.1:c.2223T>A	ENSP00000513245.1:p.Asp741Glu
ENST00000697311.1:c.*488T>A	ENSP00000513246.1:n.*488T>A
ENST00000697312.1:c.*1676T>A	ENSP00000513247.1:n.*1676T>A
ENST00000697313.1:n.2688-1425T>A
ENST00000697314.1:n.3637-1425T>A
ENST00000697315.1:c.*127T>A	ENSP00000513248.1:n.*127T>A
ENST00000697316.1:n.2344T>A
ENST00000265433.8:c.2223T>A MANE Select	ENSP00000265433.4:p.Asp741Glu
ENST00000265433.7:c.2223T>A	ENSP00000265433.3:p.Asp741Glu
ENST00000396252.6:c.*2096T>A	ENSP00000379551.2:n.*2096T>A
ENST00000409330.5:c.1977T>A	ENSP00000386924.1:p.Asp659Glu
ENST00000474821.1:n.311T>A
ENST00000613033.1:c.333T>A	ENSP00000484487.1:p.Asp111Glu
NM_001024688.2:c.1977T>A	NP_001019859.1:p.Asp659Glu
NM_002485.4:c.2223T>A , LRG_158t1:c.2223T>A	NP_002476.2:p.Asp741Glu
XM_011517044.1:c.2199T>A	XP_011515346.1:p.Asp733Glu
XM_011517045.1:c.1977T>A	XP_011515347.1:p.Asp659Glu
XM_017013460.1:c.1344T>A	XP_016868949.1:p.Asp448Glu
XM_017013462.2:c.1344T>A	XP_016868951.1:p.Asp448Glu
XM_024447163.1:c.1977T>A	XP_024302931.1:p.Asp659Glu
XM_024447164.1:c.1977T>A	XP_024302932.1:p.Asp659Glu
XM_024447165.1:c.1344T>A	XP_024302933.1:p.Asp448Glu
NM_002485.5:c.2223T>A MANE Select	NP_002476.2:p.Asp741Glu
NM_001024688.3:c.1977T>A	NP_001019859.1:p.Asp659Glu