Canonical Allele Identifier: CA2651630578
Gene: SNRPB HGNC NCBI

Linked Data

gnomAD v4: 20-2470825-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470825T>G , CM000682.2:g.2470825T>G GRCh38
NC_000020.10:g.2451471T>G , CM000682.1:g.2451471T>G GRCh37
NC_000020.9:g.2399471T>G NCBI36
NG_042057.1:g.5029A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381342.6:c.-135A>C ENSP00000370746.2:n.-135A>C
ENST00000438552.6:c.-135A>C ENSP00000412566.2:n.-135A>C
ENST00000461548.1:c.305-3067A>C ENSP00000456213.1:n.305-3067A>C
NM_003091.3:c.-135A>C NP_003082.1:n.-135A>C
NM_198216.1:c.-135A>C NP_937859.1:n.-135A>C