Canonical Allele Identifier: CA398546249

Gene: RAI1

Linked Data

• ClinVar Variation Id: 1720108
• ClinVar RCV Id: RCV002297929
• MyVariant Identifiers: chr17:g.17697072G>C (hg19) ; chr17:g.17793758G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793758G>C , CM000679.2:g.17793758G>C	GRCh38
NC_000017.10:g.17697072G>C , CM000679.1:g.17697072G>C	GRCh37
NC_000017.9:g.17637797G>C	NCBI36
NG_007101.2:g.117286G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.810G>C MANE Select	ENSP00000323074.4:p.Gln270His
ENST00000640861.1:c.744G>C	ENSP00000491773.1:p.Gln248His
ENST00000353383.5:c.810G>C	ENSP00000323074.4:p.Gln270His
ENST00000395774.1:c.810G>C	ENSP00000379120.1:p.Gln270His
NM_030665.3:c.810G>C	NP_109590.3:p.Gln270His
XM_017024025.1:c.810G>C	XP_016879514.1:p.Gln270His
XM_017024026.1:c.810G>C	XP_016879515.1:p.Gln270His
XM_017024027.1:c.810G>C	XP_016879516.1:p.Gln270His
XM_017024028.2:c.810G>C	XP_016879517.1:p.Gln270His
NM_030665.4:c.810G>C MANE Select	NP_109590.3:p.Gln270His