Canonical Allele Identifier: CA8418217

Gene: RAI1

Linked Data

• ClinVar Variation Id: 2705058
• ClinVar RCV Id: RCV003575241
• dbSNP Id: rs756018704
• ExAC: 17:17697115 C / T
• MyVariant Identifiers: chr17:g.17697115C>T (hg19) ; chr17:g.17793801C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793801C>T , CM000679.2:g.17793801C>T	GRCh38
NC_000017.10:g.17697115C>T , CM000679.1:g.17697115C>T	GRCh37
NC_000017.9:g.17637840C>T	NCBI36
NG_007101.2:g.117329C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.853C>T MANE Select	ENSP00000323074.4:p.Gln285Ter
ENST00000640861.1:c.787C>T	ENSP00000491773.1:p.Gln263Ter
ENST00000353383.5:c.853C>T	ENSP00000323074.4:p.Gln285Ter
ENST00000395774.1:c.853C>T	ENSP00000379120.1:p.Gln285Ter
NM_030665.3:c.853C>T	NP_109590.3:p.Gln285Ter
XM_017024025.1:c.853C>T	XP_016879514.1:p.Gln285Ter
XM_017024026.1:c.853C>T	XP_016879515.1:p.Gln285Ter
XM_017024027.1:c.853C>T	XP_016879516.1:p.Gln285Ter
XM_017024028.2:c.853C>T	XP_016879517.1:p.Gln285Ter
NM_030665.4:c.853C>T MANE Select	NP_109590.3:p.Gln285Ter