Canonical Allele Identifier: CA8418157
Gene: RAI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 588858
ClinVar RCV Id: RCV001533876 RCV002315353 RCV003907997
dbSNP Id: rs775499267
ExAC: 17:17696848 G / A
gnomAD v2: 17-17696848-G-A
gnomAD v3: 17-17793534-G-A
gnomAD v4: 17-17793534-G-A
MyVariant Identifiers: chr17:g.17696848G>A (hg19) chr17:g.17793534G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17793534G>A , CM000679.2:g.17793534G>A GRCh38
NC_000017.10:g.17696848G>A , CM000679.1:g.17696848G>A GRCh37
NC_000017.9:g.17637573G>A NCBI36
NG_007101.2:g.117062G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000353383.6:c.586G>A MANE Select ENSP00000323074.4:p.Asp196Asn
ENST00000640861.1:c.586G>A ENSP00000491773.1:p.Asp196Asn
ENST00000353383.5:c.586G>A ENSP00000323074.4:p.Asp196Asn
ENST00000395774.1:c.586G>A ENSP00000379120.1:p.Asp196Asn
NM_030665.3:c.586G>A NP_109590.3:p.Asp196Asn
XM_017024025.1:c.586G>A XP_016879514.1:p.Asp196Asn
XM_017024026.1:c.586G>A XP_016879515.1:p.Asp196Asn
XM_017024027.1:c.586G>A XP_016879516.1:p.Asp196Asn
XM_017024028.2:c.586G>A XP_016879517.1:p.Asp196Asn
NM_030665.4:c.586G>A MANE Select NP_109590.3:p.Asp196Asn
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