Canonical Allele Identifier: CA468448854

Gene: NEBL

Linked Data

• dbSNP Id: rs1847556443
• gnomAD v3: 10-20896967-G-C
• gnomAD v4: 10-20896967-G-C
• MyVariant Identifiers: chr10:g.21185896G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.20896967G>C , CM000672.2:g.20896967G>C	GRCh38
NC_000010.10:g.21185896G>C , CM000672.1:g.21185896G>C	GRCh37
NC_000010.9:g.21225902G>C	NCBI36
NG_017092.1:g.282221C>G , LRG_411:g.282221C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377122.9:c.144C>G MANE Select	ENSP00000366326.4:p.Leu48=
ENST00000674540.1:n.431C>G
ENST00000675114.1:n.565+64705C>G
ENST00000675700.1:n.380+64705C>G
ENST00000675702.1:n.636+64705C>G
ENST00000675747.1:n.2506C>G
ENST00000377119.5:n.154C>G
ENST00000377122.8:c.144C>G	ENSP00000366326.4:p.Leu48=
ENST00000417816.2:c.357+64705C>G	ENSP00000393896.2:n.357+64705C>G
ENST00000434381.1:c.96C>G	ENSP00000396512.1:p.Leu32=
NM_001173484.1:c.357+64705C>G	NP_001166955.1:n.357+64705C>G
NM_006393.2:c.144C>G , LRG_411t2:c.144C>G	NP_006384.1:p.Leu48=
NM_213569.2:c.357+64705C>G , LRG_411t1:c.357+64705C>G	NP_998734.1:n.357+64705C>G
XM_005252342.3:c.144C>G	XP_005252399.1:p.Leu48=
XM_005252343.3:c.144C>G	XP_005252400.1:p.Leu48=
XM_005252344.3:c.144C>G	XP_005252401.1:p.Leu48=
XM_011519290.1:c.96C>G	XP_011517592.1:p.Leu32=
XM_011519291.1:c.96C>G	XP_011517593.1:p.Leu32=
XR_242691.3:n.256C>G
XM_005252342.5:c.144C>G	XP_005252399.1:p.Leu48=
XM_005252343.5:c.144C>G	XP_005252400.1:p.Leu48=
XM_005252344.5:c.144C>G	XP_005252401.1:p.Leu48=
XM_011519291.2:c.96C>G	XP_011517593.1:p.Leu32=
XM_017015468.1:c.96C>G	XP_016870957.1:p.Leu32=
XR_001746995.2:n.1740C>G
XR_001746996.1:n.459C>G
XR_242691.5:n.1740C>G
NM_001173484.2:c.357+64705C>G	NP_001166955.1:n.357+64705C>G
NM_001377322.1:c.357+64705C>G	NP_001364251.1:n.357+64705C>G
NM_001377323.1:c.309+64705C>G	NP_001364252.1:n.309+64705C>G
NM_001377324.1:c.300+64705C>G	NP_001364253.1:n.300+64705C>G
NM_001377325.1:c.291+64705C>G	NP_001364254.1:n.291+64705C>G
NM_001377326.1:c.249+64705C>G	NP_001364255.1:n.249+64705C>G
NM_001377327.1:c.249+64705C>G	NP_001364256.1:n.249+64705C>G
NM_001377328.1:c.249+64705C>G	NP_001364257.1:n.249+64705C>G
NM_006393.3:c.144C>G MANE Select	NP_006384.1:p.Leu48=