Canonical Allele Identifier: CA662812671
Gene: NEBL HGNC NCBI

Linked Data

dbSNP Id: rs1420396269

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.21147202C>A , CM000672.2:g.21147202C>A GRCh38
NC_000010.10:g.21436131C>A , CM000672.1:g.21436131C>A GRCh37
NC_000010.9:g.21476137C>A NCBI36
NG_017092.1:g.31986G>T , LRG_411:g.31986G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000675700.1:n.187+25181G>T
ENST00000675702.1:n.443+25181G>T
ENST00000675747.1:n.224+25181G>T
ENST00000417816.2:c.164+25181G>T ENSP00000393896.2:n.164+25181G>T
NM_001173484.1:c.164+25181G>T NP_001166955.1:n.164+25181G>T
NM_213569.2:c.164+25181G>T , LRG_411t1:c.164+25181G>T NP_998734.1:n.164+25181G>T
NM_001173484.2:c.164+25181G>T NP_001166955.1:n.164+25181G>T
NM_001377322.1:c.164+25181G>T NP_001364251.1:n.164+25181G>T
NM_001377323.1:c.116+25181G>T NP_001364252.1:n.116+25181G>T
NM_001377324.1:c.107+25181G>T NP_001364253.1:n.107+25181G>T
NM_001377325.1:c.98+25181G>T NP_001364254.1:n.98+25181G>T
NM_001377326.1:c.56+25181G>T NP_001364255.1:n.56+25181G>T
NM_001377327.1:c.56+25181G>T NP_001364256.1:n.56+25181G>T
NM_001377328.1:c.56+25181G>T NP_001364257.1:n.56+25181G>T