Canonical Allele Identifier: CA10015580
Gene: CBR3 HGNC NCBI
CBR3-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs8133052
ExAC: 21:37507501 G / A
gnomAD v2: 21-37507501-G-A
gnomAD v3: 21-36135203-G-A
gnomAD v4: 21-36135203-G-A
MyVariant Identifiers: chr21:g.37507501G>A (hg19) chr21:g.36135203G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.36135203G>A , CM000683.2:g.36135203G>A GRCh38
NC_000021.8:g.37507501G>A , CM000683.1:g.37507501G>A GRCh37
NC_000021.7:g.36429371G>A NCBI36
NG_052818.1:g.5303G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290354.6:c.11G>A (CBR3) MANE Select ENSP00000290354.5:p.Cys4Tyr
ENST00000290354.5:c.11G>A (CBR3) ENSP00000290354.5:p.Cys4Tyr
NM_001236.3:c.11G>A (CBR3) NP_001227.1:p.Cys4Tyr
NR_038892.1:n.193-1442C>T (CBR3-AS1)
NR_038893.1:n.193-2129C>T (CBR3-AS1)
XM_011529772.1:c.11G>A (CBR3) XP_011528074.1:p.Cys4Tyr
XM_011529772.2:c.11G>A (CBR3) XP_011528074.1:p.Cys4Tyr
NM_001236.4:c.11G>A (CBR3) MANE Select NP_001227.1:p.Cys4Tyr
Search 100 bp 5'
Search 100 bp 3'