Canonical Allele Identifier: CA498422741
Gene: RAI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3058608
ClinVar RCV Id: RCV003977143
dbSNP Id: rs1327779339
gnomAD v2: 17-17696802-G-A
gnomAD v3: 17-17793488-G-A
gnomAD v4: 17-17793488-G-A
MyVariant Identifiers: chr17:g.17696802G>A (hg19) chr17:g.17793488G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17793488G>A , CM000679.2:g.17793488G>A GRCh38
NC_000017.10:g.17696802G>A , CM000679.1:g.17696802G>A GRCh37
NC_000017.9:g.17637527G>A NCBI36
NG_007101.2:g.117016G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000353383.6:c.540G>A MANE Select ENSP00000323074.4:p.Gln180=
ENST00000640861.1:c.540G>A ENSP00000491773.1:p.Gln180=
ENST00000353383.5:c.540G>A ENSP00000323074.4:p.Gln180=
ENST00000395774.1:c.540G>A ENSP00000379120.1:p.Gln180=
NM_030665.3:c.540G>A NP_109590.3:p.Gln180=
XM_017024025.1:c.540G>A XP_016879514.1:p.Gln180=
XM_017024026.1:c.540G>A XP_016879515.1:p.Gln180=
XM_017024027.1:c.540G>A XP_016879516.1:p.Gln180=
XM_017024028.2:c.540G>A XP_016879517.1:p.Gln180=
NM_030665.4:c.540G>A MANE Select NP_109590.3:p.Gln180=
Search 100 bp 5'
Search 100 bp 3'