Canonical Allele Identifier: CA5433396

Gene: NEBL

Linked Data

• ClinVar Variation Id: 2960477
• ClinVar RCV Id: RCV003817212
• dbSNP Id: rs754604084
• ExAC: 10:21186034 G / A
• gnomAD v2: 10-21186034-G-A
• gnomAD v4: 10-20897105-G-A
• MyVariant Identifiers: chr10:g.21186034G>A (hg19) ; chr10:g.20897105G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.20897105G>A , CM000672.2:g.20897105G>A	GRCh38
NC_000010.10:g.21186034G>A , CM000672.1:g.21186034G>A	GRCh37
NC_000010.9:g.21226040G>A	NCBI36
NG_017092.1:g.282083C>T , LRG_411:g.282083C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377122.9:c.81+20C>T MANE Select	ENSP00000366326.4:n.81+20C>T
ENST00000674540.1:n.369-76C>T
ENST00000675114.1:n.565+64567C>T
ENST00000675700.1:n.380+64567C>T
ENST00000675702.1:n.636+64567C>T
ENST00000675747.1:n.2444-76C>T
ENST00000377119.5:n.91+20C>T
ENST00000377122.8:c.81+20C>T	ENSP00000366326.4:n.81+20C>T
ENST00000417816.2:c.357+64567C>T	ENSP00000393896.2:n.357+64567C>T
ENST00000434381.1:c.34-76C>T	ENSP00000396512.1:n.34-76C>T
NM_001173484.1:c.357+64567C>T	NP_001166955.1:n.357+64567C>T
NM_006393.2:c.81+20C>T , LRG_411t2:c.81+20C>T	NP_006384.1:n.81+20C>T
NM_213569.2:c.357+64567C>T , LRG_411t1:c.357+64567C>T	NP_998734.1:n.357+64567C>T
XM_005252342.3:c.81+20C>T	XP_005252399.1:n.81+20C>T
XM_005252343.3:c.81+20C>T	XP_005252400.1:n.81+20C>T
XM_005252344.3:c.81+20C>T	XP_005252401.1:n.81+20C>T
XM_011519290.1:c.34-76C>T	XP_011517592.1:n.34-76C>T
XM_011519291.1:c.34-76C>T	XP_011517593.1:n.34-76C>T
XR_242691.3:n.193+20C>T
XM_005252342.5:c.81+20C>T	XP_005252399.1:n.81+20C>T
XM_005252343.5:c.81+20C>T	XP_005252400.1:n.81+20C>T
XM_005252344.5:c.81+20C>T	XP_005252401.1:n.81+20C>T
XM_011519291.2:c.34-76C>T	XP_011517593.1:n.34-76C>T
XM_017015468.1:c.34-76C>T	XP_016870957.1:n.34-76C>T
XR_001746995.2:n.1677+20C>T
XR_001746996.1:n.397-76C>T
XR_242691.5:n.1677+20C>T
NM_001173484.2:c.357+64567C>T	NP_001166955.1:n.357+64567C>T
NM_001377322.1:c.357+64567C>T	NP_001364251.1:n.357+64567C>T
NM_001377323.1:c.309+64567C>T	NP_001364252.1:n.309+64567C>T
NM_001377324.1:c.300+64567C>T	NP_001364253.1:n.300+64567C>T
NM_001377325.1:c.291+64567C>T	NP_001364254.1:n.291+64567C>T
NM_001377326.1:c.249+64567C>T	NP_001364255.1:n.249+64567C>T
NM_001377327.1:c.249+64567C>T	NP_001364256.1:n.249+64567C>T
NM_001377328.1:c.249+64567C>T	NP_001364257.1:n.249+64567C>T
NM_006393.3:c.81+20C>T MANE Select	NP_006384.1:n.81+20C>T