Canonical Allele Identifier: CA2651630572
Gene: SNRPB HGNC NCBI

Linked Data

gnomAD v4: 20-2470823-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470823A>C , CM000682.2:g.2470823A>C GRCh38
NC_000020.10:g.2451469A>C , CM000682.1:g.2451469A>C GRCh37
NC_000020.9:g.2399469A>C NCBI36
NG_042057.1:g.5031T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381342.6:c.-133T>G ENSP00000370746.2:n.-133T>G
ENST00000438552.6:c.-133T>G ENSP00000412566.2:n.-133T>G
ENST00000461548.1:c.305-3065T>G ENSP00000456213.1:n.305-3065T>G
NM_003091.3:c.-133T>G NP_003082.1:n.-133T>G
NM_198216.1:c.-133T>G NP_937859.1:n.-133T>G