Canonical Allele Identifier: CA2561006879
Gene: SNRPB HGNC NCBI

Linked Data

gnomAD v4: 20-2470828-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470828C>T , CM000682.2:g.2470828C>T GRCh38
NC_000020.10:g.2451474C>T , CM000682.1:g.2451474C>T GRCh37
NC_000020.9:g.2399474C>T NCBI36
NG_042057.1:g.5026G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381342.6:c.-138G>A ENSP00000370746.2:n.-138G>A
ENST00000438552.6:c.-138G>A ENSP00000412566.2:n.-138G>A
ENST00000461548.1:c.305-3070G>A ENSP00000456213.1:n.305-3070G>A
NM_003091.3:c.-138G>A NP_003082.1:n.-138G>A
NM_198216.1:c.-138G>A NP_937859.1:n.-138G>A
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