Canonical Allele Identifier: CA592022072

Gene: NEBL

Linked Data

• dbSNP Id: rs12243039
• gnomAD v2: 10-21436222-C-G
• gnomAD v3: 10-21147293-C-G
• gnomAD v4: 10-21147293-C-G
• MyVariant Identifiers: chr10:g.21436222C>G (hg19) ; chr10:g.21147293C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.21147293C>G , CM000672.2:g.21147293C>G	GRCh38
NC_000010.10:g.21436222C>G , CM000672.1:g.21436222C>G	GRCh37
NC_000010.9:g.21476228C>G	NCBI36
NG_017092.1:g.31895G>C , LRG_411:g.31895G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000675700.1:n.187+25090G>C
ENST00000675702.1:n.443+25090G>C
ENST00000675747.1:n.224+25090G>C
ENST00000417816.2:c.164+25090G>C	ENSP00000393896.2:n.164+25090G>C
NM_001173484.1:c.164+25090G>C	NP_001166955.1:n.164+25090G>C
NM_213569.2:c.164+25090G>C , LRG_411t1:c.164+25090G>C	NP_998734.1:n.164+25090G>C
NM_001173484.2:c.164+25090G>C	NP_001166955.1:n.164+25090G>C
NM_001377322.1:c.164+25090G>C	NP_001364251.1:n.164+25090G>C
NM_001377323.1:c.116+25090G>C	NP_001364252.1:n.116+25090G>C
NM_001377324.1:c.107+25090G>C	NP_001364253.1:n.107+25090G>C
NM_001377325.1:c.98+25090G>C	NP_001364254.1:n.98+25090G>C
NM_001377326.1:c.56+25090G>C	NP_001364255.1:n.56+25090G>C
NM_001377327.1:c.56+25090G>C	NP_001364256.1:n.56+25090G>C
NM_001377328.1:c.56+25090G>C	NP_001364257.1:n.56+25090G>C