Canonical Allele Identifier: CA160987
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 134876
dbSNP Id: rs1805794

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89978251C>G , CM000670.2:g.89978251C>G GRCh38
NC_000008.10:g.90990479C>G , CM000670.1:g.90990479C>G GRCh37
NC_000008.9:g.91059655C>G NCBI36
NG_008860.1:g.11421G>C , LRG_158:g.11421G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265433.8:c.553G>C MANE Select ENSP00000265433.4:p.Glu185Gln
ENST00000265433.7:c.553G>C ENSP00000265433.3:p.Glu185Gln
ENST00000396252.6:c.*426G>C ENSP00000379551.2:p.=
ENST00000409330.5:c.307G>C ENSP00000386924.1:p.Glu103Gln
ENST00000517772.5:c.307G>C ENSP00000428717.1:p.Glu103Gln
ENST00000519426.5:c.320+3124G>C ENSP00000430983.1:p.=
NM_001024688.2:c.307G>C NP_001019859.1:p.Glu103Gln
NM_002485.4:c.553G>C , LRG_158t1:c.553G>C NP_002476.2:p.Glu185Gln
XM_011517044.1:c.529G>C XP_011515346.1:p.Glu177Gln
XM_011517045.1:c.307G>C XP_011515347.1:p.Glu103Gln
XM_011517046.1:c.553G>C XP_011515348.1:p.Glu185Gln
XR_928335.1:n.690G>C
XM_017013460.1:c.-327G>C XP_016868949.1:p.=
XM_017013462.2:c.-296+2483G>C XP_016868951.1:p.=
XM_024447163.1:c.307G>C XP_024302931.1:p.Glu103Gln
XM_024447164.1:c.307G>C XP_024302932.1:p.Glu103Gln
XM_024447165.1:c.-327G>C XP_024302933.1:p.=
NM_002485.5:c.553G>C MANE Select NP_002476.2:p.Glu185Gln
NM_001024688.3:c.307G>C NP_001019859.1:p.Glu103Gln