Canonical Allele Identifier: CA398546282

Gene: RAI1

Linked Data

• ClinVar Variation Id: 1594986
• ClinVar RCV Id: RCV002108235
• dbSNP Id: rs146690371
• gnomAD v2: 17-17697089-A-G
• gnomAD v4: 17-17793775-A-G
• MyVariant Identifiers: chr17:g.17697089A>G (hg19) ; chr17:g.17793775A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793775A>G , CM000679.2:g.17793775A>G	GRCh38
NC_000017.10:g.17697089A>G , CM000679.1:g.17697089A>G	GRCh37
NC_000017.9:g.17637814A>G	NCBI36
NG_007101.2:g.117303A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.827A>G MANE Select	ENSP00000323074.4:p.Tyr276Cys
ENST00000640861.1:c.761A>G	ENSP00000491773.1:p.Tyr254Cys
ENST00000353383.5:c.827A>G	ENSP00000323074.4:p.Tyr276Cys
ENST00000395774.1:c.827A>G	ENSP00000379120.1:p.Tyr276Cys
NM_030665.3:c.827A>G	NP_109590.3:p.Tyr276Cys
XM_017024025.1:c.827A>G	XP_016879514.1:p.Tyr276Cys
XM_017024026.1:c.827A>G	XP_016879515.1:p.Tyr276Cys
XM_017024027.1:c.827A>G	XP_016879516.1:p.Tyr276Cys
XM_017024028.2:c.827A>G	XP_016879517.1:p.Tyr276Cys
NM_030665.4:c.827A>G MANE Select	NP_109590.3:p.Tyr276Cys