Canonical Allele Identifier: CA8418209

Gene: RAI1

Linked Data

• dbSNP Id: rs751663101
• ExAC: 17:17697096 G / C
• gnomAD v2: 17-17697096-G-C
• gnomAD v4: 17-17793782-G-C
• MyVariant Identifiers: chr17:g.17697096G>C (hg19) ; chr17:g.17697096_17697098delinsCCA (hg19) ; chr17:g.17793782G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793782G>C , CM000679.2:g.17793782G>C	GRCh38
NC_000017.10:g.17697096G>C , CM000679.1:g.17697096G>C	GRCh37
NC_000017.9:g.17637821G>C	NCBI36
NG_007101.2:g.117310G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.834G>C MANE Select	ENSP00000323074.4:p.Gln278His
ENST00000640861.1:c.768G>C	ENSP00000491773.1:p.Gln256His
ENST00000353383.5:c.834G>C	ENSP00000323074.4:p.Gln278His
ENST00000395774.1:c.834G>C	ENSP00000379120.1:p.Gln278His
NM_030665.3:c.834G>C	NP_109590.3:p.Gln278His
XM_017024025.1:c.834G>C	XP_016879514.1:p.Gln278His
XM_017024026.1:c.834G>C	XP_016879515.1:p.Gln278His
XM_017024027.1:c.834G>C	XP_016879516.1:p.Gln278His
XM_017024028.2:c.834G>C	XP_016879517.1:p.Gln278His
NM_030665.4:c.834G>C MANE Select	NP_109590.3:p.Gln278His