Canonical Allele Identifier: CA8418150
Gene: RAI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2147686
ClinVar RCV Id: RCV003068473
dbSNP Id: rs756649285
ExAC: 17:17696811 G / A
gnomAD v2: 17-17696811-G-A
gnomAD v3: 17-17793497-G-A
gnomAD v4: 17-17793497-G-A
MyVariant Identifiers: chr17:g.17696811G>A (hg19) chr17:g.17793497G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17793497G>A , CM000679.2:g.17793497G>A GRCh38
NC_000017.10:g.17696811G>A , CM000679.1:g.17696811G>A GRCh37
NC_000017.9:g.17637536G>A NCBI36
NG_007101.2:g.117025G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000353383.6:c.549G>A MANE Select ENSP00000323074.4:p.Leu183=
ENST00000640861.1:c.549G>A ENSP00000491773.1:p.Leu183=
ENST00000353383.5:c.549G>A ENSP00000323074.4:p.Leu183=
ENST00000395774.1:c.549G>A ENSP00000379120.1:p.Leu183=
NM_030665.3:c.549G>A NP_109590.3:p.Leu183=
XM_017024025.1:c.549G>A XP_016879514.1:p.Leu183=
XM_017024026.1:c.549G>A XP_016879515.1:p.Leu183=
XM_017024027.1:c.549G>A XP_016879516.1:p.Leu183=
XM_017024028.2:c.549G>A XP_016879517.1:p.Leu183=
NM_030665.4:c.549G>A MANE Select NP_109590.3:p.Leu183=
Search 100 bp 5'
Search 100 bp 3'