Canonical Allele Identifier: CA512322523
Gene: CBR3 HGNC NCBI
CBR3-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs2123355179
MyVariant Identifiers: chr21:g.37518624G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.36146326G>A , CM000683.2:g.36146326G>A GRCh38
NC_000021.8:g.37518624G>A , CM000683.1:g.37518624G>A GRCh37
NC_000021.7:g.36440494G>A NCBI36
NG_052818.1:g.16426G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290354.6:c.648G>A (CBR3) MANE Select ENSP00000290354.5:p.Arg216=
ENST00000290354.5:c.648G>A (CBR3) ENSP00000290354.5:p.Arg216=
NM_001236.3:c.648G>A (CBR3) NP_001227.1:p.Arg216=
NR_038892.1:n.122C>T (CBR3-AS1)
NR_038893.1:n.122C>T (CBR3-AS1)
NR_038894.1:n.122C>T (CBR3-AS1)
NM_001236.4:c.648G>A (CBR3) MANE Select NP_001227.1:p.Arg216=