Canonical Allele Identifier: CA376098562

Gene: NEBL

Linked Data

• MyVariant Identifiers: chr10:g.21185900T>G (hg19) ; chr10:g.20896971T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.20896971T>G , CM000672.2:g.20896971T>G	GRCh38
NC_000010.10:g.21185900T>G , CM000672.1:g.21185900T>G	GRCh37
NC_000010.9:g.21225906T>G	NCBI36
NG_017092.1:g.282217A>C , LRG_411:g.282217A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377122.9:c.140A>C MANE Select	ENSP00000366326.4:p.Glu47Ala
ENST00000674540.1:n.427A>C
ENST00000675114.1:n.565+64701A>C
ENST00000675700.1:n.380+64701A>C
ENST00000675702.1:n.636+64701A>C
ENST00000675747.1:n.2502A>C
ENST00000377119.5:n.150A>C
ENST00000377122.8:c.140A>C	ENSP00000366326.4:p.Glu47Ala
ENST00000417816.2:c.357+64701A>C	ENSP00000393896.2:n.357+64701A>C
ENST00000434381.1:c.92A>C	ENSP00000396512.1:p.Glu31Ala
NM_001173484.1:c.357+64701A>C	NP_001166955.1:n.357+64701A>C
NM_006393.2:c.140A>C , LRG_411t2:c.140A>C	NP_006384.1:p.Glu47Ala
NM_213569.2:c.357+64701A>C , LRG_411t1:c.357+64701A>C	NP_998734.1:n.357+64701A>C
XM_005252342.3:c.140A>C	XP_005252399.1:p.Glu47Ala
XM_005252343.3:c.140A>C	XP_005252400.1:p.Glu47Ala
XM_005252344.3:c.140A>C	XP_005252401.1:p.Glu47Ala
XM_011519290.1:c.92A>C	XP_011517592.1:p.Glu31Ala
XM_011519291.1:c.92A>C	XP_011517593.1:p.Glu31Ala
XR_242691.3:n.252A>C
XM_005252342.5:c.140A>C	XP_005252399.1:p.Glu47Ala
XM_005252343.5:c.140A>C	XP_005252400.1:p.Glu47Ala
XM_005252344.5:c.140A>C	XP_005252401.1:p.Glu47Ala
XM_011519291.2:c.92A>C	XP_011517593.1:p.Glu31Ala
XM_017015468.1:c.92A>C	XP_016870957.1:p.Glu31Ala
XR_001746995.2:n.1736A>C
XR_001746996.1:n.455A>C
XR_242691.5:n.1736A>C
NM_001173484.2:c.357+64701A>C	NP_001166955.1:n.357+64701A>C
NM_001377322.1:c.357+64701A>C	NP_001364251.1:n.357+64701A>C
NM_001377323.1:c.309+64701A>C	NP_001364252.1:n.309+64701A>C
NM_001377324.1:c.300+64701A>C	NP_001364253.1:n.300+64701A>C
NM_001377325.1:c.291+64701A>C	NP_001364254.1:n.291+64701A>C
NM_001377326.1:c.249+64701A>C	NP_001364255.1:n.249+64701A>C
NM_001377327.1:c.249+64701A>C	NP_001364256.1:n.249+64701A>C
NM_001377328.1:c.249+64701A>C	NP_001364257.1:n.249+64701A>C
NM_006393.3:c.140A>C MANE Select	NP_006384.1:p.Glu47Ala