Canonical Allele Identifier: CA376103281

Gene: NEBL

Linked Data

• MyVariant Identifiers: chr10:g.21157673C>G (hg19) ; chr10:g.20868744C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.20868744C>G , CM000672.2:g.20868744C>G	GRCh38
NC_000010.10:g.21157673C>G , CM000672.1:g.21157673C>G	GRCh37
NC_000010.9:g.21197679C>G	NCBI36
NG_017092.1:g.310444G>C , LRG_411:g.310444G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377122.9:c.604G>C MANE Select	ENSP00000366326.4:p.Gly202Arg
ENST00000674540.1:n.891G>C
ENST00000675114.1:n.566-55804G>C
ENST00000675700.1:n.381-55804G>C
ENST00000675702.1:n.637-55804G>C
ENST00000675747.1:n.2966G>C
ENST00000377119.5:n.614G>C
ENST00000377122.8:c.604G>C	ENSP00000366326.4:p.Gly202Arg
ENST00000417816.2:c.358-55804G>C	ENSP00000393896.2:n.358-55804G>C
NM_001173484.1:c.358-55804G>C	NP_001166955.1:n.358-55804G>C
NM_006393.2:c.604G>C , LRG_411t2:c.604G>C	NP_006384.1:p.Gly202Arg
NM_213569.2:c.358-55804G>C , LRG_411t1:c.358-55804G>C	NP_998734.1:n.358-55804G>C
XM_005252342.3:c.502G>C	XP_005252399.1:p.Gly168Arg
XM_005252343.3:c.604G>C	XP_005252400.1:p.Gly202Arg
XM_005252344.3:c.604G>C	XP_005252401.1:p.Gly202Arg
XM_011519290.1:c.556G>C	XP_011517592.1:p.Gly186Arg
XM_011519291.1:c.556G>C	XP_011517593.1:p.Gly186Arg
XR_242691.3:n.716G>C
XR_930736.1:n.706+3277C>G
XR_930737.1:n.706+3277C>G
XR_930738.1:n.706+3277C>G
XR_930739.1:n.565+3277C>G
XR_930740.1:n.600+3277C>G
XM_005252342.5:c.502G>C	XP_005252399.1:p.Gly168Arg
XM_005252343.5:c.604G>C	XP_005252400.1:p.Gly202Arg
XM_005252344.5:c.604G>C	XP_005252401.1:p.Gly202Arg
XM_011519291.2:c.556G>C	XP_011517593.1:p.Gly186Arg
XM_017015468.1:c.556G>C	XP_016870957.1:p.Gly186Arg
XR_001746995.2:n.2200G>C
XR_001746996.1:n.919G>C
XR_001747385.2:n.706+3277C>G
XR_001747386.2:n.706+3277C>G
XR_242691.5:n.2200G>C
XR_930736.3:n.706+3277C>G
XR_930737.3:n.706+3277C>G
XR_930739.3:n.565+3277C>G
XR_930740.3:n.600+3277C>G
NM_001173484.2:c.358-55804G>C	NP_001166955.1:n.358-55804G>C
NM_001377322.1:c.358-55804G>C	NP_001364251.1:n.358-55804G>C
NM_001377323.1:c.310-55804G>C	NP_001364252.1:n.310-55804G>C
NM_001377324.1:c.301-55804G>C	NP_001364253.1:n.301-55804G>C
NM_001377325.1:c.292-55804G>C	NP_001364254.1:n.292-55804G>C
NM_001377326.1:c.250-55804G>C	NP_001364255.1:n.250-55804G>C
NM_001377327.1:c.250-55804G>C	NP_001364256.1:n.250-55804G>C
NM_001377328.1:c.250-55804G>C	NP_001364257.1:n.250-55804G>C
NM_006393.3:c.604G>C MANE Select	NP_006384.1:p.Gly202Arg