Canonical Allele Identifier: CA398545806
Gene: RAI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17793541C>T , CM000679.2:g.17793541C>T GRCh38
NC_000017.10:g.17696855C>T , CM000679.1:g.17696855C>T GRCh37
NC_000017.9:g.17637580C>T NCBI36
NG_007101.2:g.117069C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000353383.6:c.593C>T MANE Select ENSP00000323074.4:p.Ala198Val
ENST00000640861.1:c.593C>T ENSP00000491773.1:p.Ala198Val
ENST00000353383.5:c.593C>T ENSP00000323074.4:p.Ala198Val
ENST00000395774.1:c.593C>T ENSP00000379120.1:p.Ala198Val
NM_030665.3:c.593C>T NP_109590.3:p.Ala198Val
XM_017024025.1:c.593C>T XP_016879514.1:p.Ala198Val
XM_017024026.1:c.593C>T XP_016879515.1:p.Ala198Val
XM_017024027.1:c.593C>T XP_016879516.1:p.Ala198Val
XM_017024028.2:c.593C>T XP_016879517.1:p.Ala198Val
NM_030665.4:c.593C>T MANE Select NP_109590.3:p.Ala198Val