Canonical Allele Identifier: CA8418187
Gene: RAI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1307113
ClinVar RCV Id: RCV001760531
dbSNP Id: rs377028008
ExAC: 17:17697029 G / A
gnomAD v2: 17-17697029-G-A
gnomAD v3: 17-17793715-G-A
gnomAD v4: 17-17793715-G-A
MyVariant Identifiers: chr17:g.17697029G>A (hg19) chr17:g.17793715G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17793715G>A , CM000679.2:g.17793715G>A GRCh38
NC_000017.10:g.17697029G>A , CM000679.1:g.17697029G>A GRCh37
NC_000017.9:g.17637754G>A NCBI36
NG_007101.2:g.117243G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000353383.6:c.767G>A MANE Select ENSP00000323074.4:p.Ser256Asn
ENST00000640861.1:c.701G>A ENSP00000491773.1:p.Ser234Asn
ENST00000353383.5:c.767G>A ENSP00000323074.4:p.Ser256Asn
ENST00000395774.1:c.767G>A ENSP00000379120.1:p.Ser256Asn
NM_030665.3:c.767G>A NP_109590.3:p.Ser256Asn
XM_017024025.1:c.767G>A XP_016879514.1:p.Ser256Asn
XM_017024026.1:c.767G>A XP_016879515.1:p.Ser256Asn
XM_017024027.1:c.767G>A XP_016879516.1:p.Ser256Asn
XM_017024028.2:c.767G>A XP_016879517.1:p.Ser256Asn
NM_030665.4:c.767G>A MANE Select NP_109590.3:p.Ser256Asn
Search 100 bp 5'
Search 100 bp 3'