Canonical Allele Identifier: CA2651630601
Gene: SNRPB HGNC NCBI

Linked Data

gnomAD v4: 20-2470837-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470837T>G , CM000682.2:g.2470837T>G GRCh38
NC_000020.10:g.2451483T>G , CM000682.1:g.2451483T>G GRCh37
NC_000020.9:g.2399483T>G NCBI36
NG_042057.1:g.5017A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381342.6:c.-147A>C ENSP00000370746.2:n.-147A>C
ENST00000438552.6:c.-147A>C ENSP00000412566.2:n.-147A>C
ENST00000461548.1:c.305-3079A>C ENSP00000456213.1:n.305-3079A>C
NM_003091.3:c.-147A>C NP_003082.1:n.-147A>C
NM_198216.1:c.-147A>C NP_937859.1:n.-147A>C
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