Canonical Allele Identifier: CA310850056

Gene: SNRPB

Linked Data

• dbSNP Id: rs531748438
• gnomAD v2: 20-2451433-T-C
• gnomAD v3: 20-2470787-T-C
• gnomAD v4: 20-2470787-T-C
• MyVariant Identifiers: chr20:g.2451433T>C (hg19) ; chr20:g.2470787T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2470787T>C , CM000682.2:g.2470787T>C	GRCh38
NC_000020.10:g.2451433T>C , CM000682.1:g.2451433T>C	GRCh37
NC_000020.9:g.2399433T>C	NCBI36
NG_042057.1:g.5067A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688423.1:n.1A>G
ENST00000688775.1:n.1A>G
ENST00000689440.1:n.3A>G
ENST00000693393.1:n.3A>G
ENST00000381342.7:c.-97A>G MANE Select	ENSP00000370746.3:n.-97A>G
ENST00000339610.10:c.-97A>G	ENSP00000342305.7:n.-97A>G
ENST00000381342.6:c.-97A>G	ENSP00000370746.2:n.-97A>G
ENST00000438552.6:c.-97A>G	ENSP00000412566.2:n.-97A>G
ENST00000461548.1:c.305-3029A>G	ENSP00000456213.1:n.305-3029A>G
NM_003091.3:c.-97A>G	NP_003082.1:n.-97A>G
NM_198216.1:c.-97A>G	NP_937859.1:n.-97A>G
NM_003091.4:c.-97A>G MANE Select	NP_003082.1:n.-97A>G
NM_198216.2:c.-97A>G	NP_937859.1:n.-97A>G