Canonical Allele Identifier: CA2580620032
Gene: SNRPB HGNC NCBI

Linked Data

gnomAD v4: 20-2470805-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470805G>C , CM000682.2:g.2470805G>C GRCh38
NC_000020.10:g.2451451G>C , CM000682.1:g.2451451G>C GRCh37
NC_000020.9:g.2399451G>C NCBI36
NG_042057.1:g.5049C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000339610.10:c.-115C>G ENSP00000342305.7:n.-115C>G
ENST00000381342.6:c.-115C>G ENSP00000370746.2:n.-115C>G
ENST00000438552.6:c.-115C>G ENSP00000412566.2:n.-115C>G
ENST00000461548.1:c.305-3047C>G ENSP00000456213.1:n.305-3047C>G
NM_003091.3:c.-115C>G NP_003082.1:n.-115C>G
NM_198216.1:c.-115C>G NP_937859.1:n.-115C>G