Canonical Allele Identifier: CA8418219

Gene: RAI1

Linked Data

• dbSNP Id: rs749246569
• ExAC: 17:17697117 G / T
• MyVariant Identifiers: chr17:g.17697117G>T (hg19) ; chr17:g.17793803G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793803G>T , CM000679.2:g.17793803G>T	GRCh38
NC_000017.10:g.17697117G>T , CM000679.1:g.17697117G>T	GRCh37
NC_000017.9:g.17637842G>T	NCBI36
NG_007101.2:g.117331G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.855G>T MANE Select	ENSP00000323074.4:p.Gln285His
ENST00000640861.1:c.789G>T	ENSP00000491773.1:p.Gln263His
ENST00000353383.5:c.855G>T	ENSP00000323074.4:p.Gln285His
ENST00000395774.1:c.855G>T	ENSP00000379120.1:p.Gln285His
NM_030665.3:c.855G>T	NP_109590.3:p.Gln285His
XM_017024025.1:c.855G>T	XP_016879514.1:p.Gln285His
XM_017024026.1:c.855G>T	XP_016879515.1:p.Gln285His
XM_017024027.1:c.855G>T	XP_016879516.1:p.Gln285His
XM_017024028.2:c.855G>T	XP_016879517.1:p.Gln285His
NM_030665.4:c.855G>T MANE Select	NP_109590.3:p.Gln285His