Canonical Allele Identifier: CA8418232

Gene: RAI1

Linked Data

• dbSNP Id: rs755138257
• ExAC: 17:17697172 C / A
• gnomAD v2: 17-17697172-C-A
• gnomAD v4: 17-17793858-C-A
• MyVariant Identifiers: chr17:g.17697172C>A (hg19) ; chr17:g.17793858C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793858C>A , CM000679.2:g.17793858C>A	GRCh38
NC_000017.10:g.17697172C>A , CM000679.1:g.17697172C>A	GRCh37
NC_000017.9:g.17637897C>A	NCBI36
NG_007101.2:g.117386C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.910C>A MANE Select	ENSP00000323074.4:p.His304Asn
ENST00000640861.1:c.844C>A	ENSP00000491773.1:p.His282Asn
ENST00000353383.5:c.910C>A	ENSP00000323074.4:p.His304Asn
ENST00000395774.1:c.910C>A	ENSP00000379120.1:p.His304Asn
NM_030665.3:c.910C>A	NP_109590.3:p.His304Asn
XM_017024025.1:c.910C>A	XP_016879514.1:p.His304Asn
XM_017024026.1:c.910C>A	XP_016879515.1:p.His304Asn
XM_017024027.1:c.910C>A	XP_016879516.1:p.His304Asn
XM_017024028.2:c.910C>A	XP_016879517.1:p.His304Asn
NM_030665.4:c.910C>A MANE Select	NP_109590.3:p.His304Asn