Canonical Allele Identifier: CA398558529
Gene: RAI1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.17701450G>A (hg19) chr17:g.17798136G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17798136G>A , CM000679.2:g.17798136G>A GRCh38
NC_000017.10:g.17701450G>A , CM000679.1:g.17701450G>A GRCh37
NC_000017.9:g.17642175G>A NCBI36
NG_007101.2:g.121664G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000353383.6:c.5188G>A MANE Select ENSP00000323074.4:p.Glu1730Lys
ENST00000640861.1:c.4852G>A ENSP00000491773.1:p.Glu1618Lys
ENST00000353383.5:c.5188G>A ENSP00000323074.4:p.Glu1730Lys
NM_030665.3:c.5188G>A NP_109590.3:p.Glu1730Lys
XM_017024025.1:c.5188G>A XP_016879514.1:p.Glu1730Lys
XM_017024026.1:c.5188G>A XP_016879515.1:p.Glu1730Lys
XM_017024027.1:c.5188G>A XP_016879516.1:p.Glu1730Lys
XM_017024028.2:c.5188G>A XP_016879517.1:p.Glu1730Lys
NM_030665.4:c.5188G>A MANE Select NP_109590.3:p.Glu1730Lys
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