Canonical Allele Identifier: CA16041200
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 371428
dbSNP Id: rs1057517262

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89937076C>T , CM000670.2:g.89937076C>T GRCh38
NC_000008.10:g.90949304C>T , CM000670.1:g.90949304C>T GRCh37
NC_000008.9:g.91018480C>T NCBI36
NG_008860.1:g.52596G>A , LRG_158:g.52596G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265433.8:c.2185-1G>A MANE Select ENSP00000265433.4:p.=
ENST00000265433.7:c.2185-1G>A ENSP00000265433.3:p.=
ENST00000396252.6:c.*2058-1G>A ENSP00000379551.2:p.=
ENST00000409330.5:c.1939-1G>A ENSP00000386924.1:p.=
ENST00000474821.1:n.272G>A
ENST00000613033.1:n.295-1G>A ENSP00000484487.1:p.=
NM_001024688.2:c.1939-1G>A NP_001019859.1:p.=
NM_002485.4:c.2185-1G>A , LRG_158t1:c.2185-1G>A NP_002476.2:p.=
XM_011517044.1:c.2161-1G>A XP_011515346.1:p.=
XM_011517045.1:c.1939-1G>A XP_011515347.1:p.=
XM_017013460.1:c.1306-1G>A XP_016868949.1:p.=
XM_017013462.2:c.1306-1G>A XP_016868951.1:p.=
XM_024447163.1:c.1939-1G>A XP_024302931.1:p.=
XM_024447164.1:c.1939-1G>A XP_024302932.1:p.=
XM_024447165.1:c.1306-1G>A XP_024302933.1:p.=
NM_002485.5:c.2185-1G>A MANE Select NP_002476.2:p.=
NM_001024688.3:c.1939-1G>A NP_001019859.1:p.=