Canonical Allele Identifier: CA634141197

Gene: SNRPB

Linked Data

• dbSNP Id: rs6049288
• gnomAD v2: 20-2451451-G-A
• gnomAD v3: 20-2470805-G-A
• gnomAD v4: 20-2470805-G-A
• MyVariant Identifiers: chr20:g.2451451G>A (hg19) ; chr20:g.2470805G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2470805G>A , CM000682.2:g.2470805G>A	GRCh38
NC_000020.10:g.2451451G>A , CM000682.1:g.2451451G>A	GRCh37
NC_000020.9:g.2399451G>A	NCBI36
NG_042057.1:g.5049C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339610.10:c.-115C>T	ENSP00000342305.7:n.-115C>T
ENST00000381342.6:c.-115C>T	ENSP00000370746.2:n.-115C>T
ENST00000438552.6:c.-115C>T	ENSP00000412566.2:n.-115C>T
ENST00000461548.1:c.305-3047C>T	ENSP00000456213.1:n.305-3047C>T
NM_003091.3:c.-115C>T	NP_003082.1:n.-115C>T
NM_198216.1:c.-115C>T	NP_937859.1:n.-115C>T