Canonical Allele Identifier: CA2651630523
Gene: SNRPB HGNC NCBI

Linked Data

gnomAD v4: 20-2470778-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470778T>G , CM000682.2:g.2470778T>G GRCh38
NC_000020.10:g.2451424T>G , CM000682.1:g.2451424T>G GRCh37
NC_000020.9:g.2399424T>G NCBI36
NG_042057.1:g.5076A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000688423.1:n.10A>C
ENST00000688775.1:n.10A>C
ENST00000689440.1:n.12A>C
ENST00000693393.1:n.12A>C
ENST00000381342.7:c.-88A>C MANE Select ENSP00000370746.3:n.-88A>C
ENST00000339610.10:c.-88A>C ENSP00000342305.7:n.-88A>C
ENST00000381342.6:c.-88A>C ENSP00000370746.2:n.-88A>C
ENST00000438552.6:c.-88A>C ENSP00000412566.2:n.-88A>C
ENST00000461548.1:c.305-3020A>C ENSP00000456213.1:n.305-3020A>C
NM_003091.3:c.-88A>C NP_003082.1:n.-88A>C
NM_198216.1:c.-88A>C NP_937859.1:n.-88A>C
NM_003091.4:c.-88A>C MANE Select NP_003082.1:n.-88A>C
NM_198216.2:c.-88A>C NP_937859.1:n.-88A>C