Canonical Allele Identifier: CA751413132
Gene: DGCR5 HGNC NCBI

Linked Data

dbSNP Id: rs1223612091
gnomAD v3: 22-18979131-C-T
gnomAD v4: 22-18979131-C-T
MyVariant Identifiers: chr22:g.18966644C>T (hg19) chr22:g.18979131C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18979131C>T , CM000684.2:g.18979131C>T GRCh38
NC_000022.10:g.18966644C>T , CM000684.1:g.18966644C>T GRCh37
NC_000022.9:g.17346644C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_002733.2:n.161+8473C>T
NR_045121.1:n.161+8473C>T
NR_110533.1:n.161+8473C>T
NR_002733.3:n.191+8473C>T
NR_024159.2:n.191+8473C>T
NR_026651.2:n.191+8473C>T
NR_045121.2:n.191+8473C>T
NR_110533.2:n.191+8473C>T
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