Canonical Allele Identifier: CA2651630533
Gene: SNRPB HGNC NCBI

Linked Data

gnomAD v4: 20-2470790-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470790A>G , CM000682.2:g.2470790A>G GRCh38
NC_000020.10:g.2451436A>G , CM000682.1:g.2451436A>G GRCh37
NC_000020.9:g.2399436A>G NCBI36
NG_042057.1:g.5064T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000339610.10:c.-100T>C ENSP00000342305.7:n.-100T>C
ENST00000381342.6:c.-100T>C ENSP00000370746.2:n.-100T>C
ENST00000438552.6:c.-100T>C ENSP00000412566.2:n.-100T>C
ENST00000461548.1:c.305-3032T>C ENSP00000456213.1:n.305-3032T>C
NM_003091.3:c.-100T>C NP_003082.1:n.-100T>C
NM_198216.1:c.-100T>C NP_937859.1:n.-100T>C