Canonical Allele Identifier: CA8418177
Gene: RAI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1623449
ClinVar RCV Id: RCV002104474
dbSNP Id: rs769515151

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17793690G>A , CM000679.2:g.17793690G>A GRCh38
NC_000017.10:g.17697004G>A , CM000679.1:g.17697004G>A GRCh37
NC_000017.9:g.17637729G>A NCBI36
NG_007101.2:g.117218G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000353383.6:c.742G>A MANE Select ENSP00000323074.4:p.Asp248Asn
ENST00000640861.1:c.676G>A ENSP00000491773.1:p.Asp226Asn
ENST00000353383.5:c.742G>A ENSP00000323074.4:p.Asp248Asn
ENST00000395774.1:c.742G>A ENSP00000379120.1:p.Asp248Asn
NM_030665.3:c.742G>A NP_109590.3:p.Asp248Asn
XM_017024025.1:c.742G>A XP_016879514.1:p.Asp248Asn
XM_017024026.1:c.742G>A XP_016879515.1:p.Asp248Asn
XM_017024027.1:c.742G>A XP_016879516.1:p.Asp248Asn
XM_017024028.2:c.742G>A XP_016879517.1:p.Asp248Asn
NM_030665.4:c.742G>A MANE Select NP_109590.3:p.Asp248Asn