Canonical Allele Identifier: CA288367193

Gene: RAI1

Linked Data

• dbSNP Id: rs1030001131
• gnomAD v2: 17-17696942-A-G
• gnomAD v4: 17-17793628-A-G
• MyVariant Identifiers: chr17:g.17696942A>G (hg19) ; chr17:g.17793628A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793628A>G , CM000679.2:g.17793628A>G	GRCh38
NC_000017.10:g.17696942A>G , CM000679.1:g.17696942A>G	GRCh37
NC_000017.9:g.17637667A>G	NCBI36
NG_007101.2:g.117156A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.680A>G MANE Select	ENSP00000323074.4:p.Gln227Arg
ENST00000640861.1:c.617-2A>G	ENSP00000491773.1:n.617-2A>G
ENST00000353383.5:c.680A>G	ENSP00000323074.4:p.Gln227Arg
ENST00000395774.1:c.680A>G	ENSP00000379120.1:p.Gln227Arg
NM_030665.3:c.680A>G	NP_109590.3:p.Gln227Arg
XM_017024025.1:c.680A>G	XP_016879514.1:p.Gln227Arg
XM_017024026.1:c.680A>G	XP_016879515.1:p.Gln227Arg
XM_017024027.1:c.680A>G	XP_016879516.1:p.Gln227Arg
XM_017024028.2:c.680A>G	XP_016879517.1:p.Gln227Arg
NM_030665.4:c.680A>G MANE Select	NP_109590.3:p.Gln227Arg