Canonical Allele Identifier: CA288367383
Gene: RAI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1629537
ClinVar RCV Id: RCV002125534
dbSNP Id: rs998440520
gnomAD v2: 17-17697108-G-A
COSMIC: COSM5364474 COSM5364475
MyVariant Identifiers: chr17:g.17697108G>A (hg19) chr17:g.17793794G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17793794G>A , CM000679.2:g.17793794G>A GRCh38
NC_000017.10:g.17697108G>A , CM000679.1:g.17697108G>A GRCh37
NC_000017.9:g.17637833G>A NCBI36
NG_007101.2:g.117322G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000353383.6:c.846G>A MANE Select ENSP00000323074.4:p.Gln282=
ENST00000640861.1:c.780G>A ENSP00000491773.1:p.Gln260=
ENST00000353383.5:c.846G>A ENSP00000323074.4:p.Gln282=
ENST00000395774.1:c.846G>A ENSP00000379120.1:p.Gln282=
NM_030665.3:c.846G>A NP_109590.3:p.Gln282=
XM_017024025.1:c.846G>A XP_016879514.1:p.Gln282=
XM_017024026.1:c.846G>A XP_016879515.1:p.Gln282=
XM_017024027.1:c.846G>A XP_016879516.1:p.Gln282=
XM_017024028.2:c.846G>A XP_016879517.1:p.Gln282=
NM_030665.4:c.846G>A MANE Select NP_109590.3:p.Gln282=
Search 100 bp 5'
Search 100 bp 3'