Canonical Allele Identifier: CA2651630602
Gene: SNRPB HGNC NCBI

Linked Data

gnomAD v4: 20-2470838-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470838C>A , CM000682.2:g.2470838C>A GRCh38
NC_000020.10:g.2451484C>A , CM000682.1:g.2451484C>A GRCh37
NC_000020.9:g.2399484C>A NCBI36
NG_042057.1:g.5016G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381342.6:c.-148G>T ENSP00000370746.2:n.-148G>T
ENST00000438552.6:c.-148G>T ENSP00000412566.2:n.-148G>T
ENST00000461548.1:c.305-3080G>T ENSP00000456213.1:n.305-3080G>T
NM_003091.3:c.-148G>T NP_003082.1:n.-148G>T
NM_198216.1:c.-148G>T NP_937859.1:n.-148G>T
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