Canonical Allele Identifier: CA149351
Gene: RAI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 96199
ClinVar RCV Id: RCV000082277 RCV001689632
dbSNP Id: rs398124421
ExAC: 17:17697102 G / A
gnomAD v2: 17-17697102-G-A
MyVariant Identifiers: chr17:g.17697102G>A (hg19) chr17:g.17697102_17697106delinsACAGC (hg19) chr17:g.17793788G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17793788G>A , CM000679.2:g.17793788G>A GRCh38
NC_000017.10:g.17697102G>A , CM000679.1:g.17697102G>A GRCh37
NC_000017.9:g.17637827G>A NCBI36
NG_007101.2:g.117316G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000353383.6:c.840G>A MANE Select ENSP00000323074.4:p.Gln280=
ENST00000640861.1:c.774G>A ENSP00000491773.1:p.Gln258=
ENST00000353383.5:c.840G>A ENSP00000323074.4:p.Gln280=
ENST00000395774.1:c.840G>A ENSP00000379120.1:p.Gln280=
NM_030665.3:c.840G>A NP_109590.3:p.Gln280=
XM_017024025.1:c.840G>A XP_016879514.1:p.Gln280=
XM_017024026.1:c.840G>A XP_016879515.1:p.Gln280=
XM_017024027.1:c.840G>A XP_016879516.1:p.Gln280=
XM_017024028.2:c.840G>A XP_016879517.1:p.Gln280=
NM_030665.4:c.840G>A MANE Select NP_109590.3:p.Gln280=
Search 100 bp 5'
Search 100 bp 3'