Canonical Allele Identifier: CA14934554
Gene: DGCR8 HGNC NCBI

Linked Data

dbSNP Id: rs3757
gnomAD v2: 22-20099331-G-A
gnomAD v3: 22-20111808-G-A
gnomAD v4: 22-20111808-G-A
MyVariant Identifiers: chr22:g.20099331G>A (hg19) chr22:g.20111808G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20111808G>A , CM000684.2:g.20111808G>A GRCh38
NC_000022.10:g.20099331G>A , CM000684.1:g.20099331G>A GRCh37
NC_000022.9:g.18479331G>A NCBI36
NG_022931.1:g.36577G>A
NG_022931.2:g.36577G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000407755.2:c.*1700G>A ENSP00000384726.1:n.*1700G>A
ENST00000457069.2:c.*1700G>A ENSP00000409625.2:n.*1700G>A
ENST00000704820.1:c.*1700G>A ENSP00000516052.1:n.*1700G>A
ENST00000704821.1:c.*1700G>A ENSP00000516053.1:n.*1700G>A
ENST00000351989.8:c.*1700G>A MANE Select ENSP00000263209.3:n.*1700G>A
ENST00000351989.7:c.*1700G>A ENSP00000263209.3:n.*1700G>A
ENST00000383024.6:c.*1700G>A ENSP00000372488.2:n.*1700G>A
ENST00000407755.1:c.*1700G>A ENSP00000384726.1:n.*1700G>A
ENST00000495826.5:n.4631G>A
ENST00000498171.5:n.3592G>A
NM_001190326.1:c.*1700G>A NP_001177255.1:n.*1700G>A
NM_022720.6:c.*1700G>A NP_073557.3:n.*1700G>A
XM_006724268.2:c.*1700G>A XP_006724331.1:n.*1700G>A
NM_022720.7:c.*1700G>A MANE Select NP_073557.3:n.*1700G>A
NM_001190326.2:c.*1700G>A NP_001177255.1:n.*1700G>A
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