Canonical Allele Identifier: CA498422727

Gene: RAI1

Linked Data

• dbSNP Id: rs1350447277
• gnomAD v2: 17-17697006-C-T
• gnomAD v4: 17-17793692-C-T
• MyVariant Identifiers: chr17:g.17697006C>T (hg19) ; chr17:g.17793692C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793692C>T , CM000679.2:g.17793692C>T	GRCh38
NC_000017.10:g.17697006C>T , CM000679.1:g.17697006C>T	GRCh37
NC_000017.9:g.17637731C>T	NCBI36
NG_007101.2:g.117220C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.744C>T MANE Select	ENSP00000323074.4:p.Asp248=
ENST00000640861.1:c.678C>T	ENSP00000491773.1:p.Asp226=
ENST00000353383.5:c.744C>T	ENSP00000323074.4:p.Asp248=
ENST00000395774.1:c.744C>T	ENSP00000379120.1:p.Asp248=
NM_030665.3:c.744C>T	NP_109590.3:p.Asp248=
XM_017024025.1:c.744C>T	XP_016879514.1:p.Asp248=
XM_017024026.1:c.744C>T	XP_016879515.1:p.Asp248=
XM_017024027.1:c.744C>T	XP_016879516.1:p.Asp248=
XM_017024028.2:c.744C>T	XP_016879517.1:p.Asp248=
NM_030665.4:c.744C>T MANE Select	NP_109590.3:p.Asp248=