Canonical Allele Identifier: CA310850157
Gene: SNRPB HGNC NCBI

Linked Data

dbSNP Id: rs974088710
gnomAD v2: 20-2451499-T-C
gnomAD v3: 20-2470853-T-C
gnomAD v4: 20-2470853-T-C
MyVariant Identifiers: chr20:g.2451499T>C (hg19) chr20:g.2470853T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470853T>C , CM000682.2:g.2470853T>C GRCh38
NC_000020.10:g.2451499T>C , CM000682.1:g.2451499T>C GRCh37
NC_000020.9:g.2399499T>C NCBI36
NG_042057.1:g.5001A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381342.6:c.-163A>G ENSP00000370746.2:n.-163A>G
ENST00000438552.6:c.-163A>G ENSP00000412566.2:n.-163A>G
ENST00000461548.1:c.305-3095A>G ENSP00000456213.1:n.305-3095A>G
NM_003091.3:c.-163A>G NP_003082.1:n.-163A>G
NM_198216.1:c.-163A>G NP_937859.1:n.-163A>G
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