Canonical Allele Identifier: CA10578798

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89971254A>G , CM000670.2:g.89971254A>G	GRCh38
NC_000008.10:g.90983482A>G , CM000670.1:g.90983482A>G	GRCh37
NC_000008.9:g.91052658A>G	NCBI36
NG_008860.1:g.18418T>C , LRG_158:g.18418T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002485.5:c.621T>C MANE Select	NP_002476.2:p.Ser207=
ENST00000265433.8:c.621T>C MANE Select	ENSP00000265433.4:p.Ser207=
NM_001024688.2:c.375T>C	NP_001019859.1:p.Ser125=
NM_001024688.3:c.375T>C	NP_001019859.1:p.Ser125=
NM_002485.4:c.621T>C , LRG_158t1:c.621T>C	NP_002476.2:p.Ser207=
ENST00000265433.7:c.621T>C	ENSP00000265433.3:p.Ser207=
ENST00000396252.6:c.*494T>C	ENSP00000379551.2:n.*494T>C
ENST00000409330.5:c.375T>C	ENSP00000386924.1:p.Ser125=
ENST00000494804.2:n.1923T>C
ENST00000517337.2:c.375T>C	ENSP00000429971.2:p.Ser125=
ENST00000517772.5:c.375T>C	ENSP00000428717.1:p.Ser125=
ENST00000519426.5:c.357T>C	ENSP00000430983.1:p.Ser119=
ENST00000523444.2:c.375T>C	ENSP00000428252.2:p.Ser125=
ENST00000697292.1:c.621T>C	ENSP00000513229.1:p.Ser207=
ENST00000697293.1:c.621T>C	ENSP00000513230.1:p.Ser207=
ENST00000697294.1:c.*232T>C	ENSP00000513231.1:n.*232T>C
ENST00000697295.1:c.74T>C	ENSP00000513232.1:p.Val25Ala
ENST00000697296.1:c.*289T>C	ENSP00000513233.1:n.*289T>C
ENST00000697297.1:n.2406T>C
ENST00000697298.1:c.375T>C	ENSP00000513234.1:p.Ser125=
ENST00000697299.1:c.375T>C	ENSP00000513235.1:p.Ser125=
ENST00000697300.1:c.*225T>C	ENSP00000513236.1:n.*225T>C
ENST00000697301.1:c.*142T>C	ENSP00000513237.1:n.*142T>C
ENST00000697302.1:c.*142T>C	ENSP00000513238.1:n.*142T>C
ENST00000697303.1:c.*225T>C	ENSP00000513239.1:n.*225T>C
ENST00000697304.1:c.585-6747T>C	ENSP00000513240.1:n.585-6747T>C
ENST00000697306.1:c.480+9480T>C	ENSP00000513241.1:n.480+9480T>C
ENST00000697307.1:c.621T>C	ENSP00000513242.1:p.Ser207=
ENST00000697308.1:c.621T>C	ENSP00000513243.1:p.Ser207=
ENST00000697309.1:c.621T>C	ENSP00000513244.1:p.Ser207=
ENST00000697310.1:c.621T>C	ENSP00000513245.1:p.Ser207=
ENST00000697311.1:c.621T>C	ENSP00000513246.1:p.Ser207=
ENST00000697312.1:c.*19T>C	ENSP00000513247.1:n.*19T>C
ENST00000697313.1:n.2412T>C
ENST00000697314.1:n.2412T>C
ENST00000697315.1:c.621T>C	ENSP00000513248.1:p.Ser207=
ENST00000697316.1:n.742T>C
ENST00000697317.1:n.731T>C
ENST00000697318.1:n.733T>C
XM_011517044.1:c.597T>C	XP_011515346.1:p.Ser199=
XM_011517045.1:c.375T>C	XP_011515347.1:p.Ser125=
XM_011517046.1:c.621T>C	XP_011515348.1:p.Ser207=
XM_017013460.1:c.-259T>C	XP_016868949.1:n.-259T>C
XM_017013462.2:c.-259T>C	XP_016868951.1:n.-259T>C
XM_024447163.1:c.375T>C	XP_024302931.1:p.Ser125=
XM_024447164.1:c.375T>C	XP_024302932.1:p.Ser125=
XM_024447165.1:c.-259T>C	XP_024302933.1:n.-259T>C
XR_928335.1:n.758T>C