Canonical Allele Identifier: CA398558544

Gene: RAI1

Linked Data

• ClinVar Variation Id: 1983343
• ClinVar RCV Id: RCV002770215
• MyVariant Identifiers: chr17:g.17701454A>G (hg19) ; chr17:g.17798140A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17798140A>G , CM000679.2:g.17798140A>G	GRCh38
NC_000017.10:g.17701454A>G , CM000679.1:g.17701454A>G	GRCh37
NC_000017.9:g.17642179A>G	NCBI36
NG_007101.2:g.121668A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000353383.6:c.5192A>G MANE Select	ENSP00000323074.4:p.Glu1731Gly
ENST00000640861.1:c.4856A>G	ENSP00000491773.1:p.Glu1619Gly
ENST00000353383.5:c.5192A>G	ENSP00000323074.4:p.Glu1731Gly
NM_030665.3:c.5192A>G	NP_109590.3:p.Glu1731Gly
XM_017024025.1:c.5192A>G	XP_016879514.1:p.Glu1731Gly
XM_017024026.1:c.5192A>G	XP_016879515.1:p.Glu1731Gly
XM_017024027.1:c.5192A>G	XP_016879516.1:p.Glu1731Gly
XM_017024028.2:c.5192A>G	XP_016879517.1:p.Glu1731Gly
NM_030665.4:c.5192A>G MANE Select	NP_109590.3:p.Glu1731Gly