Canonical Allele Identifier: CA16044021

Gene: RAI1

Linked Data

• ClinVar Variation Id: 375265
• ClinVar RCV Id: RCV000416345 ; RCV002402113
• dbSNP Id: rs1057519065
• gnomAD v4: 17-17794696-G-A
• MyVariant Identifiers: chr17:g.17698010G>A (hg19) ; chr17:g.17794696G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17794696G>A , CM000679.2:g.17794696G>A	GRCh38
NC_000017.10:g.17698010G>A , CM000679.1:g.17698010G>A	GRCh37
NC_000017.9:g.17638735G>A	NCBI36
NG_007101.2:g.118224G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.1748G>A MANE Select	ENSP00000323074.4:p.Ser583Asn
ENST00000640861.1:c.1607G>A	ENSP00000491773.1:p.Ser536Asn
ENST00000353383.5:c.1748G>A	ENSP00000323074.4:p.Ser583Asn
ENST00000395774.1:c.1748G>A	ENSP00000379120.1:p.Ser583Asn
NM_030665.3:c.1748G>A	NP_109590.3:p.Ser583Asn
XM_017024025.1:c.1748G>A	XP_016879514.1:p.Ser583Asn
XM_017024026.1:c.1748G>A	XP_016879515.1:p.Ser583Asn
XM_017024027.1:c.1748G>A	XP_016879516.1:p.Ser583Asn
XM_017024028.2:c.1748G>A	XP_016879517.1:p.Ser583Asn
NM_030665.4:c.1748G>A MANE Select	NP_109590.3:p.Ser583Asn