Canonical Allele Identifier: CA662812684
Gene: NEBL HGNC NCBI

Linked Data

dbSNP Id: rs1465916777

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.21147214T>C , CM000672.2:g.21147214T>C GRCh38
NC_000010.10:g.21436143T>C , CM000672.1:g.21436143T>C GRCh37
NC_000010.9:g.21476149T>C NCBI36
NG_017092.1:g.31974A>G , LRG_411:g.31974A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000675700.1:n.187+25169A>G
ENST00000675702.1:n.443+25169A>G
ENST00000675747.1:n.224+25169A>G
ENST00000417816.2:c.164+25169A>G ENSP00000393896.2:n.164+25169A>G
NM_001173484.1:c.164+25169A>G NP_001166955.1:n.164+25169A>G
NM_213569.2:c.164+25169A>G , LRG_411t1:c.164+25169A>G NP_998734.1:n.164+25169A>G
NM_001173484.2:c.164+25169A>G NP_001166955.1:n.164+25169A>G
NM_001377322.1:c.164+25169A>G NP_001364251.1:n.164+25169A>G
NM_001377323.1:c.116+25169A>G NP_001364252.1:n.116+25169A>G
NM_001377324.1:c.107+25169A>G NP_001364253.1:n.107+25169A>G
NM_001377325.1:c.98+25169A>G NP_001364254.1:n.98+25169A>G
NM_001377326.1:c.56+25169A>G NP_001364255.1:n.56+25169A>G
NM_001377327.1:c.56+25169A>G NP_001364256.1:n.56+25169A>G
NM_001377328.1:c.56+25169A>G NP_001364257.1:n.56+25169A>G