Canonical Allele Identifier: CA310850110

Gene: SNRPB

Linked Data

• dbSNP Id: rs563837923
• gnomAD v3: 20-2470803-A-C
• gnomAD v4: 20-2470803-A-C
• MyVariant Identifiers: chr20:g.2451449A>C (hg19) ; chr20:g.2470803A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2470803A>C , CM000682.2:g.2470803A>C	GRCh38
NC_000020.10:g.2451449A>C , CM000682.1:g.2451449A>C	GRCh37
NC_000020.9:g.2399449A>C	NCBI36
NG_042057.1:g.5051T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339610.10:c.-113T>G	ENSP00000342305.7:n.-113T>G
ENST00000381342.6:c.-113T>G	ENSP00000370746.2:n.-113T>G
ENST00000438552.6:c.-113T>G	ENSP00000412566.2:n.-113T>G
ENST00000461548.1:c.305-3045T>G	ENSP00000456213.1:n.305-3045T>G
NM_003091.3:c.-113T>G	NP_003082.1:n.-113T>G
NM_198216.1:c.-113T>G	NP_937859.1:n.-113T>G