Canonical Allele Identifier: CA398546423

Gene: RAI1

Linked Data

• ClinVar Variation Id: 1352711
• ClinVar RCV Id: RCV002039900
• dbSNP Id: rs1190215285
• gnomAD v2: 17-17697151-C-T
• gnomAD v4: 17-17793837-C-T
• MyVariant Identifiers: chr17:g.17697151C>T (hg19) ; chr17:g.17793837C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793837C>T , CM000679.2:g.17793837C>T	GRCh38
NC_000017.10:g.17697151C>T , CM000679.1:g.17697151C>T	GRCh37
NC_000017.9:g.17637876C>T	NCBI36
NG_007101.2:g.117365C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.889C>T MANE Select	ENSP00000323074.4:p.His297Tyr
ENST00000640861.1:c.823C>T	ENSP00000491773.1:p.His275Tyr
ENST00000353383.5:c.889C>T	ENSP00000323074.4:p.His297Tyr
ENST00000395774.1:c.889C>T	ENSP00000379120.1:p.His297Tyr
NM_030665.3:c.889C>T	NP_109590.3:p.His297Tyr
XM_017024025.1:c.889C>T	XP_016879514.1:p.His297Tyr
XM_017024026.1:c.889C>T	XP_016879515.1:p.His297Tyr
XM_017024027.1:c.889C>T	XP_016879516.1:p.His297Tyr
XM_017024028.2:c.889C>T	XP_016879517.1:p.His297Tyr
NM_030665.4:c.889C>T MANE Select	NP_109590.3:p.His297Tyr