Canonical Allele Identifier: CA8418155
Gene: RAI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3151204
ClinVar RCV Id: RCV004445593
dbSNP Id: rs746116582
ExAC: 17:17696840 T / C
gnomAD v2: 17-17696840-T-C
gnomAD v3: 17-17793526-T-C
gnomAD v4: 17-17793526-T-C
MyVariant Identifiers: chr17:g.17696840T>C (hg19) chr17:g.17793526T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17793526T>C , CM000679.2:g.17793526T>C GRCh38
NC_000017.10:g.17696840T>C , CM000679.1:g.17696840T>C GRCh37
NC_000017.9:g.17637565T>C NCBI36
NG_007101.2:g.117054T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000353383.6:c.578T>C MANE Select ENSP00000323074.4:p.Leu193Pro
ENST00000640861.1:c.578T>C ENSP00000491773.1:p.Leu193Pro
ENST00000353383.5:c.578T>C ENSP00000323074.4:p.Leu193Pro
ENST00000395774.1:c.578T>C ENSP00000379120.1:p.Leu193Pro
NM_030665.3:c.578T>C NP_109590.3:p.Leu193Pro
XM_017024025.1:c.578T>C XP_016879514.1:p.Leu193Pro
XM_017024026.1:c.578T>C XP_016879515.1:p.Leu193Pro
XM_017024027.1:c.578T>C XP_016879516.1:p.Leu193Pro
XM_017024028.2:c.578T>C XP_016879517.1:p.Leu193Pro
NM_030665.4:c.578T>C MANE Select NP_109590.3:p.Leu193Pro
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