Canonical Allele Identifier: CA408013710
Community Standard Title: NM_003091.4(SNRPB):c.560-1G>T
Gene: SNRPB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2462762C>A , CM000682.2:g.2462762C>A GRCh38
NC_000020.10:g.2443408C>A , CM000682.1:g.2443408C>A GRCh37
NC_000020.9:g.2391408C>A NCBI36
NG_042057.1:g.13092G>T

Transcript Alleles

HGVS Amino-acid Change
NM_003091.4:c.560-1G>T MANE Select NP_003082.1:n.560-1G>T
ENST00000381342.7:c.560-1G>T MANE Select ENSP00000370746.3:n.560-1G>T
NM_003091.3:c.560-1G>T NP_003082.1:n.560-1G>T
NM_198216.1:c.560-1G>T NP_937859.1:n.560-1G>T
NM_198216.2:c.560-1G>T NP_937859.1:n.560-1G>T
ENST00000339610.10:c.560-1G>T ENSP00000342305.7:n.560-1G>T
ENST00000381342.6:c.560-1G>T ENSP00000370746.2:n.560-1G>T
ENST00000438552.6:c.560-1G>T ENSP00000412566.2:n.560-1G>T
ENST00000474384.2:c.*471-1G>T ENSP00000474579.1:n.*471-1G>T
ENST00000688423.1:n.2963-1G>T
ENST00000688450.1:n.1640-1G>T
ENST00000688775.1:n.2444-1G>T
ENST00000689440.1:n.2155-1G>T
ENST00000689611.1:n.1809-1G>T
ENST00000690623.1:n.733-1G>T
ENST00000693393.1:n.2446-1G>T