Canonical Allele Identifier: CA186154
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 183696
dbSNP Id: rs1061302

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89946194T>C , CM000670.2:g.89946194T>C GRCh38
NC_000008.10:g.90958422T>C , CM000670.1:g.90958422T>C GRCh37
NC_000008.9:g.91027598T>C NCBI36
NG_008860.1:g.43478A>G , LRG_158:g.43478A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265433.8:c.2016A>G MANE Select ENSP00000265433.4:p.Pro672=
ENST00000265433.7:c.2016A>G ENSP00000265433.3:p.Pro672=
ENST00000396252.6:c.*1889A>G ENSP00000379551.2:p.=
ENST00000409330.5:c.1770A>G ENSP00000386924.1:p.Pro590=
ENST00000520325.1:n.432A>G
ENST00000613033.1:n.180+1630A>G ENSP00000484487.1:p.=
NM_001024688.2:c.1770A>G NP_001019859.1:p.Pro590=
NM_002485.4:c.2016A>G , LRG_158t1:c.2016A>G NP_002476.2:p.Pro672=
XM_011517044.1:c.1992A>G XP_011515346.1:p.Pro664=
XM_011517045.1:c.1770A>G XP_011515347.1:p.Pro590=
XM_017013460.1:c.1137A>G XP_016868949.1:p.Pro379=
XM_017013462.2:c.1137A>G XP_016868951.1:p.Pro379=
XM_024447163.1:c.1770A>G XP_024302931.1:p.Pro590=
XM_024447164.1:c.1770A>G XP_024302932.1:p.Pro590=
XM_024447165.1:c.1137A>G XP_024302933.1:p.Pro379=
NM_002485.5:c.2016A>G MANE Select NP_002476.2:p.Pro672=
NM_001024688.3:c.1770A>G NP_001019859.1:p.Pro590=