Canonical Allele Identifier: CA8418164

Gene: RAI1

Linked Data

• dbSNP Id: rs765872377
• ExAC: 17:17696914 A / C
• gnomAD v2: 17-17696914-A-C
• gnomAD v4: 17-17793600-A-C
• MyVariant Identifiers: chr17:g.17696914A>C (hg19) ; chr17:g.17793600A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793600A>C , CM000679.2:g.17793600A>C	GRCh38
NC_000017.10:g.17696914A>C , CM000679.1:g.17696914A>C	GRCh37
NC_000017.9:g.17637639A>C	NCBI36
NG_007101.2:g.117128A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.652A>C MANE Select	ENSP00000323074.4:p.Thr218Pro
ENST00000640861.1:c.617-30A>C	ENSP00000491773.1:n.617-30A>C
ENST00000353383.5:c.652A>C	ENSP00000323074.4:p.Thr218Pro
ENST00000395774.1:c.652A>C	ENSP00000379120.1:p.Thr218Pro
NM_030665.3:c.652A>C	NP_109590.3:p.Thr218Pro
XM_017024025.1:c.652A>C	XP_016879514.1:p.Thr218Pro
XM_017024026.1:c.652A>C	XP_016879515.1:p.Thr218Pro
XM_017024027.1:c.652A>C	XP_016879516.1:p.Thr218Pro
XM_017024028.2:c.652A>C	XP_016879517.1:p.Thr218Pro
NM_030665.4:c.652A>C MANE Select	NP_109590.3:p.Thr218Pro