Canonical Allele Identifier: CA398546126
Gene: RAI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17793694G>T , CM000679.2:g.17793694G>T GRCh38
NC_000017.10:g.17697008G>T , CM000679.1:g.17697008G>T GRCh37
NC_000017.9:g.17637733G>T NCBI36
NG_007101.2:g.117222G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000353383.6:c.746G>T MANE Select ENSP00000323074.4:p.Arg249Met
ENST00000640861.1:c.680G>T ENSP00000491773.1:p.Arg227Met
ENST00000353383.5:c.746G>T ENSP00000323074.4:p.Arg249Met
ENST00000395774.1:c.746G>T ENSP00000379120.1:p.Arg249Met
NM_030665.3:c.746G>T NP_109590.3:p.Arg249Met
XM_017024025.1:c.746G>T XP_016879514.1:p.Arg249Met
XM_017024026.1:c.746G>T XP_016879515.1:p.Arg249Met
XM_017024027.1:c.746G>T XP_016879516.1:p.Arg249Met
XM_017024028.2:c.746G>T XP_016879517.1:p.Arg249Met
NM_030665.4:c.746G>T MANE Select NP_109590.3:p.Arg249Met