Canonical Allele Identifier: CA8418188

Gene: RAI1

Linked Data

• ClinVar Variation Id: 436493
• ClinVar RCV Id: RCV002056874 ; RCV002314877
• dbSNP Id: rs758661378
• ExAC: 17:17697038 C / T
• gnomAD v2: 17-17697038-C-T
• gnomAD v3: 17-17793724-C-T
• gnomAD v4: 17-17793724-C-T
• MyVariant Identifiers: chr17:g.17697038C>T (hg19) ; chr17:g.17793724C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793724C>T , CM000679.2:g.17793724C>T	GRCh38
NC_000017.10:g.17697038C>T , CM000679.1:g.17697038C>T	GRCh37
NC_000017.9:g.17637763C>T	NCBI36
NG_007101.2:g.117252C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000353383.6:c.776C>T MANE Select	ENSP00000323074.4:p.Pro259Leu
ENST00000640861.1:c.710C>T	ENSP00000491773.1:p.Pro237Leu
ENST00000353383.5:c.776C>T	ENSP00000323074.4:p.Pro259Leu
ENST00000395774.1:c.776C>T	ENSP00000379120.1:p.Pro259Leu
NM_030665.3:c.776C>T	NP_109590.3:p.Pro259Leu
XM_017024025.1:c.776C>T	XP_016879514.1:p.Pro259Leu
XM_017024026.1:c.776C>T	XP_016879515.1:p.Pro259Leu
XM_017024027.1:c.776C>T	XP_016879516.1:p.Pro259Leu
XM_017024028.2:c.776C>T	XP_016879517.1:p.Pro259Leu
NM_030665.4:c.776C>T MANE Select	NP_109590.3:p.Pro259Leu