Canonical Allele Identifier: CA181275404
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 485910
dbSNP Id: rs962092255

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89947868G>A , CM000670.2:g.89947868G>A GRCh38
NC_000008.10:g.90960096G>A , CM000670.1:g.90960096G>A GRCh37
NC_000008.9:g.91029272G>A NCBI36
NG_008860.1:g.41804C>T , LRG_158:g.41804C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265433.8:c.1870C>T MANE Select ENSP00000265433.4:p.Arg624Cys
ENST00000265433.7:c.1870C>T ENSP00000265433.3:p.Arg624Cys
ENST00000396252.6:c.*1743C>T ENSP00000379551.2:p.=
ENST00000409330.5:c.1624C>T ENSP00000386924.1:p.Arg542Cys
ENST00000613033.1:n.136C>T ENSP00000484487.1:p.Arg46Cys
NM_001024688.2:c.1624C>T NP_001019859.1:p.Arg542Cys
NM_002485.4:c.1870C>T , LRG_158t1:c.1870C>T NP_002476.2:p.Arg624Cys
XM_011517044.1:c.1846C>T XP_011515346.1:p.Arg616Cys
XM_011517045.1:c.1624C>T XP_011515347.1:p.Arg542Cys
XR_928335.1:n.2009C>T
XM_017013460.1:c.991C>T XP_016868949.1:p.Arg331Cys
XM_017013462.2:c.991C>T XP_016868951.1:p.Arg331Cys
XM_024447163.1:c.1624C>T XP_024302931.1:p.Arg542Cys
XM_024447164.1:c.1624C>T XP_024302932.1:p.Arg542Cys
XM_024447165.1:c.991C>T XP_024302933.1:p.Arg331Cys
NM_002485.5:c.1870C>T MANE Select NP_002476.2:p.Arg624Cys
NM_001024688.3:c.1624C>T NP_001019859.1:p.Arg542Cys