Canonical Allele Identifier: CA310850125
Gene: SNRPB HGNC NCBI

Linked Data

dbSNP Id: rs1021156262
gnomAD v4: 20-2470812-G-T
MyVariant Identifiers: chr20:g.2451458G>T (hg19) chr20:g.2470812G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470812G>T , CM000682.2:g.2470812G>T GRCh38
NC_000020.10:g.2451458G>T , CM000682.1:g.2451458G>T GRCh37
NC_000020.9:g.2399458G>T NCBI36
NG_042057.1:g.5042C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000339610.10:c.-122C>A ENSP00000342305.7:n.-122C>A
ENST00000381342.6:c.-122C>A ENSP00000370746.2:n.-122C>A
ENST00000438552.6:c.-122C>A ENSP00000412566.2:n.-122C>A
ENST00000461548.1:c.305-3054C>A ENSP00000456213.1:n.305-3054C>A
NM_003091.3:c.-122C>A NP_003082.1:n.-122C>A
NM_198216.1:c.-122C>A NP_937859.1:n.-122C>A
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