Canonical Allele Identifier: CA288365823

Gene: RAI1

Linked Data

• ClinVar Variation Id: 1261147
• ClinVar RCV Id: RCV001671548
• dbSNP Id: rs11656699
• gnomAD v2: 17-17694761-G-A
• gnomAD v3: 17-17791447-G-A
• gnomAD v4: 17-17791447-G-A
• MyVariant Identifiers: chr17:g.17694761G>A (hg19) ; chr17:g.17791447G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17791447G>A , CM000679.2:g.17791447G>A	GRCh38
NC_000017.10:g.17694761G>A , CM000679.1:g.17694761G>A	GRCh37
NC_000017.9:g.17635486G>A	NCBI36
NG_007101.2:g.114975G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.-16-1486G>A MANE Select	ENSP00000323074.4:n.-16-1486G>A
ENST00000353383.5:c.-16-1486G>A	ENSP00000323074.4:n.-16-1486G>A
ENST00000395774.1:c.-16-1486G>A	ENSP00000379120.1:n.-16-1486G>A
ENST00000471135.2:c.-16-1486G>A	ENSP00000463607.1:n.-16-1486G>A
NM_030665.3:c.-16-1486G>A	NP_109590.3:n.-16-1486G>A
XM_017024025.1:c.-16-1486G>A	XP_016879514.1:n.-16-1486G>A
XM_017024026.1:c.-16-1486G>A	XP_016879515.1:n.-16-1486G>A
XM_017024027.1:c.-16-1486G>A	XP_016879516.1:n.-16-1486G>A
XM_017024028.2:c.-16-1486G>A	XP_016879517.1:n.-16-1486G>A
NM_030665.4:c.-16-1486G>A MANE Select	NP_109590.3:n.-16-1486G>A