Canonical Allele Identifier: CA310850008

Gene: SNRPB

Linked Data

• dbSNP Id: rs920622306
• gnomAD v2: 20-2451419-G-A
• gnomAD v3: 20-2470773-G-A
• gnomAD v4: 20-2470773-G-A
• MyVariant Identifiers: chr20:g.2451419G>A (hg19) ; chr20:g.2470773G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2470773G>A , CM000682.2:g.2470773G>A	GRCh38
NC_000020.10:g.2451419G>A , CM000682.1:g.2451419G>A	GRCh37
NC_000020.9:g.2399419G>A	NCBI36
NG_042057.1:g.5081C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000688423.1:n.15C>T
ENST00000688775.1:n.15C>T
ENST00000689440.1:n.17C>T
ENST00000693393.1:n.17C>T
ENST00000381342.7:c.-83C>T MANE Select	ENSP00000370746.3:n.-83C>T
ENST00000339610.10:c.-83C>T	ENSP00000342305.7:n.-83C>T
ENST00000381342.6:c.-83C>T	ENSP00000370746.2:n.-83C>T
ENST00000438552.6:c.-83C>T	ENSP00000412566.2:n.-83C>T
ENST00000461548.1:c.305-3015C>T	ENSP00000456213.1:n.305-3015C>T
NM_003091.3:c.-83C>T	NP_003082.1:n.-83C>T
NM_198216.1:c.-83C>T	NP_937859.1:n.-83C>T
NM_003091.4:c.-83C>T MANE Select	NP_003082.1:n.-83C>T
NM_198216.2:c.-83C>T	NP_937859.1:n.-83C>T