Canonical Allele Identifier: CA204327562
Gene: NEBL HGNC NCBI

Linked Data

dbSNP Id: rs1009890328

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.21147235C>G , CM000672.2:g.21147235C>G GRCh38
NC_000010.10:g.21436164C>G , CM000672.1:g.21436164C>G GRCh37
NC_000010.9:g.21476170C>G NCBI36
NG_017092.1:g.31953G>C , LRG_411:g.31953G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000675700.1:n.187+25148G>C
ENST00000675702.1:n.443+25148G>C
ENST00000675747.1:n.224+25148G>C
ENST00000417816.2:c.164+25148G>C ENSP00000393896.2:n.164+25148G>C
NM_001173484.1:c.164+25148G>C NP_001166955.1:n.164+25148G>C
NM_213569.2:c.164+25148G>C , LRG_411t1:c.164+25148G>C NP_998734.1:n.164+25148G>C
NM_001173484.2:c.164+25148G>C NP_001166955.1:n.164+25148G>C
NM_001377322.1:c.164+25148G>C NP_001364251.1:n.164+25148G>C
NM_001377323.1:c.116+25148G>C NP_001364252.1:n.116+25148G>C
NM_001377324.1:c.107+25148G>C NP_001364253.1:n.107+25148G>C
NM_001377325.1:c.98+25148G>C NP_001364254.1:n.98+25148G>C
NM_001377326.1:c.56+25148G>C NP_001364255.1:n.56+25148G>C
NM_001377327.1:c.56+25148G>C NP_001364256.1:n.56+25148G>C
NM_001377328.1:c.56+25148G>C NP_001364257.1:n.56+25148G>C