Canonical Allele Identifier: CA398545919

Gene: RAI1

Linked Data

• MyVariant Identifiers: chr17:g.17696909T>A (hg19) ; chr17:g.17793595T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793595T>A , CM000679.2:g.17793595T>A	GRCh38
NC_000017.10:g.17696909T>A , CM000679.1:g.17696909T>A	GRCh37
NC_000017.9:g.17637634T>A	NCBI36
NG_007101.2:g.117123T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.647T>A MANE Select	ENSP00000323074.4:p.Phe216Tyr
ENST00000640861.1:c.616+31T>A	ENSP00000491773.1:n.616+31T>A
ENST00000353383.5:c.647T>A	ENSP00000323074.4:p.Phe216Tyr
ENST00000395774.1:c.647T>A	ENSP00000379120.1:p.Phe216Tyr
NM_030665.3:c.647T>A	NP_109590.3:p.Phe216Tyr
XM_017024025.1:c.647T>A	XP_016879514.1:p.Phe216Tyr
XM_017024026.1:c.647T>A	XP_016879515.1:p.Phe216Tyr
XM_017024027.1:c.647T>A	XP_016879516.1:p.Phe216Tyr
XM_017024028.2:c.647T>A	XP_016879517.1:p.Phe216Tyr
NM_030665.4:c.647T>A MANE Select	NP_109590.3:p.Phe216Tyr