Canonical Allele Identifier: CA10578777

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89958809G>C , CM000670.2:g.89958809G>C	GRCh38
NC_000008.10:g.90971037G>C , CM000670.1:g.90971037G>C	GRCh37
NC_000008.9:g.91040213G>C	NCBI36
NG_008860.1:g.30863C>G , LRG_158:g.30863C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002485.5:c.1040C>G MANE Select	NP_002476.2:p.Ser347Ter
ENST00000265433.8:c.1040C>G MANE Select	ENSP00000265433.4:p.Ser347Ter
NM_001024688.2:c.794C>G	NP_001019859.1:p.Ser265Ter
NM_001024688.3:c.794C>G	NP_001019859.1:p.Ser265Ter
NM_002485.4:c.1040C>G , LRG_158t1:c.1040C>G	NP_002476.2:p.Ser347Ter
ENST00000265433.7:c.1040C>G	ENSP00000265433.3:p.Ser347Ter
ENST00000396252.6:c.*913C>G	ENSP00000379551.2:n.*913C>G
ENST00000409330.5:c.794C>G	ENSP00000386924.1:p.Ser265Ter
ENST00000494804.2:n.2342C>G
ENST00000517337.2:c.794C>G	ENSP00000429971.2:p.Ser265Ter
ENST00000523444.2:c.794C>G	ENSP00000428252.2:p.Ser265Ter
ENST00000697292.1:c.1040C>G	ENSP00000513229.1:p.Ser347Ter
ENST00000697293.1:c.1040C>G	ENSP00000513230.1:p.Ser347Ter
ENST00000697294.1:c.*651C>G	ENSP00000513231.1:n.*651C>G
ENST00000697295.1:c.*349C>G	ENSP00000513232.1:n.*349C>G
ENST00000697296.1:c.*708C>G	ENSP00000513233.1:n.*708C>G
ENST00000697297.1:n.2825C>G
ENST00000697298.1:c.794C>G	ENSP00000513234.1:p.Ser265Ter
ENST00000697299.1:c.794C>G	ENSP00000513235.1:p.Ser265Ter
ENST00000697300.1:c.*644C>G	ENSP00000513236.1:n.*644C>G
ENST00000697301.1:c.*561C>G	ENSP00000513237.1:n.*561C>G
ENST00000697302.1:c.*561C>G	ENSP00000513238.1:n.*561C>G
ENST00000697303.1:c.*644C>G	ENSP00000513239.1:n.*644C>G
ENST00000697304.1:c.728C>G	ENSP00000513240.1:p.Ser243Ter
ENST00000697306.1:c.*40C>G	ENSP00000513241.1:n.*40C>G
ENST00000697307.1:c.1040C>G	ENSP00000513242.1:p.Ser347Ter
ENST00000697308.1:c.1040C>G	ENSP00000513243.1:p.Ser347Ter
ENST00000697309.1:c.1040C>G	ENSP00000513244.1:p.Ser347Ter
ENST00000697310.1:c.1040C>G	ENSP00000513245.1:p.Ser347Ter
ENST00000697311.1:c.1040C>G	ENSP00000513246.1:p.Ser347Ter
ENST00000697312.1:c.*438C>G	ENSP00000513247.1:n.*438C>G
ENST00000697313.1:n.2687+11555C>G
ENST00000697314.1:n.2831C>G
ENST00000697315.1:c.1040C>G	ENSP00000513248.1:p.Ser347Ter
ENST00000697316.1:n.1161C>G
ENST00000697317.1:n.1150C>G
ENST00000697318.1:n.1152C>G
XM_011517044.1:c.1016C>G	XP_011515346.1:p.Ser339Ter
XM_011517045.1:c.794C>G	XP_011515347.1:p.Ser265Ter
XM_011517046.1:c.1040C>G	XP_011515348.1:p.Ser347Ter
XM_017013460.1:c.161C>G	XP_016868949.1:p.Ser54Ter
XM_017013462.2:c.161C>G	XP_016868951.1:p.Ser54Ter
XM_024447163.1:c.794C>G	XP_024302931.1:p.Ser265Ter
XM_024447164.1:c.794C>G	XP_024302932.1:p.Ser265Ter
XM_024447165.1:c.161C>G	XP_024302933.1:p.Ser54Ter
XR_928335.1:n.1177C>G