Canonical Allele Identifier: CA322592267
Gene: SMARCB1 HGNC NCBI

Linked Data

dbSNP Id: rs5760016
MyVariant Identifiers: chr22:g.24129145G>A (hg19) chr22:g.23786958G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23786958G>A , CM000684.2:g.23786958G>A GRCh38
NC_000022.10:g.24129145G>A , CM000684.1:g.24129145G>A GRCh37
NC_000022.9:g.22459145G>A NCBI36
NG_009303.1:g.4996G>A , LRG_520:g.4996G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000407422.8:c.-212G>A ENSP00000383984.3:n.-212G>A
NM_001007468.2:c.-212G>A NP_001007469.1:n.-212G>A
NM_001317946.1:c.-212G>A NP_001304875.1:n.-212G>A
NM_001362877.1:c.-212G>A NP_001349806.1:n.-212G>A
NM_003073.4:c.-212G>A NP_003064.2:n.-212G>A
Search 100 bp 5'
Search 100 bp 3'