Canonical Allele Identifier: CA371656925

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90976667T>G (hg19) ; chr8:g.89964439T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89964439T>G , CM000670.2:g.89964439T>G	GRCh38
NC_000008.10:g.90976667T>G , CM000670.1:g.90976667T>G	GRCh37
NC_000008.9:g.91045843T>G	NCBI36
NG_008860.1:g.25233A>C , LRG_158:g.25233A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.2267A>C
ENST00000517337.2:c.719A>C	ENSP00000429971.2:p.Tyr240Ser
ENST00000523444.2:c.719A>C	ENSP00000428252.2:p.Tyr240Ser
ENST00000697292.1:c.965A>C	ENSP00000513229.1:p.Tyr322Ser
ENST00000697293.1:c.965A>C	ENSP00000513230.1:p.Tyr322Ser
ENST00000697294.1:c.*576A>C	ENSP00000513231.1:n.*576A>C
ENST00000697295.1:c.*274A>C	ENSP00000513232.1:n.*274A>C
ENST00000697296.1:c.*633A>C	ENSP00000513233.1:n.*633A>C
ENST00000697297.1:n.2750A>C
ENST00000697298.1:c.719A>C	ENSP00000513234.1:p.Tyr240Ser
ENST00000697299.1:c.719A>C	ENSP00000513235.1:p.Tyr240Ser
ENST00000697300.1:c.*569A>C	ENSP00000513236.1:n.*569A>C
ENST00000697301.1:c.*486A>C	ENSP00000513237.1:n.*486A>C
ENST00000697302.1:c.*486A>C	ENSP00000513238.1:n.*486A>C
ENST00000697303.1:c.*569A>C	ENSP00000513239.1:n.*569A>C
ENST00000697304.1:c.653A>C	ENSP00000513240.1:p.Tyr218Ser
ENST00000697306.1:c.481-5585A>C	ENSP00000513241.1:n.481-5585A>C
ENST00000697307.1:c.965A>C	ENSP00000513242.1:p.Tyr322Ser
ENST00000697308.1:c.965A>C	ENSP00000513243.1:p.Tyr322Ser
ENST00000697309.1:c.965A>C	ENSP00000513244.1:p.Tyr322Ser
ENST00000697310.1:c.965A>C	ENSP00000513245.1:p.Tyr322Ser
ENST00000697311.1:c.965A>C	ENSP00000513246.1:p.Tyr322Ser
ENST00000697312.1:c.*363A>C	ENSP00000513247.1:n.*363A>C
ENST00000697313.1:n.2687+5925A>C
ENST00000697314.1:n.2756A>C
ENST00000697315.1:c.965A>C	ENSP00000513248.1:p.Tyr322Ser
ENST00000697316.1:n.1086A>C
ENST00000697317.1:n.1075A>C
ENST00000697318.1:n.1077A>C
ENST00000265433.8:c.965A>C MANE Select	ENSP00000265433.4:p.Tyr322Ser
ENST00000265433.7:c.965A>C	ENSP00000265433.3:p.Tyr322Ser
ENST00000396252.6:c.*838A>C	ENSP00000379551.2:n.*838A>C
ENST00000409330.5:c.719A>C	ENSP00000386924.1:p.Tyr240Ser
NM_001024688.2:c.719A>C	NP_001019859.1:p.Tyr240Ser
NM_002485.4:c.965A>C , LRG_158t1:c.965A>C	NP_002476.2:p.Tyr322Ser
XM_011517044.1:c.941A>C	XP_011515346.1:p.Tyr314Ser
XM_011517045.1:c.719A>C	XP_011515347.1:p.Tyr240Ser
XM_011517046.1:c.965A>C	XP_011515348.1:p.Tyr322Ser
XR_928335.1:n.1102A>C
XM_017013460.1:c.86A>C	XP_016868949.1:p.Tyr29Ser
XM_017013462.2:c.86A>C	XP_016868951.1:p.Tyr29Ser
XM_024447163.1:c.719A>C	XP_024302931.1:p.Tyr240Ser
XM_024447164.1:c.719A>C	XP_024302932.1:p.Tyr240Ser
XM_024447165.1:c.86A>C	XP_024302933.1:p.Tyr29Ser
NM_002485.5:c.965A>C MANE Select	NP_002476.2:p.Tyr322Ser
NM_001024688.3:c.719A>C	NP_001019859.1:p.Tyr240Ser