Canonical Allele Identifier: CA398558323

Gene: RAI1

Linked Data

• dbSNP Id: rs1249374649
• gnomAD v2: 17-17701357-C-T
• gnomAD v3: 17-17798043-C-T
• gnomAD v4: 17-17798043-C-T
• MyVariant Identifiers: chr17:g.17701357C>T (hg19) ; chr17:g.17798043C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17798043C>T , CM000679.2:g.17798043C>T	GRCh38
NC_000017.10:g.17701357C>T , CM000679.1:g.17701357C>T	GRCh37
NC_000017.9:g.17642082C>T	NCBI36
NG_007101.2:g.121571C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000353383.6:c.5095C>T MANE Select	ENSP00000323074.4:p.Leu1699Phe
ENST00000640861.1:c.4759C>T	ENSP00000491773.1:p.Leu1587Phe
ENST00000353383.5:c.5095C>T	ENSP00000323074.4:p.Leu1699Phe
NM_030665.3:c.5095C>T	NP_109590.3:p.Leu1699Phe
XM_017024025.1:c.5095C>T	XP_016879514.1:p.Leu1699Phe
XM_017024026.1:c.5095C>T	XP_016879515.1:p.Leu1699Phe
XM_017024027.1:c.5095C>T	XP_016879516.1:p.Leu1699Phe
XM_017024028.2:c.5095C>T	XP_016879517.1:p.Leu1699Phe
NM_030665.4:c.5095C>T MANE Select	NP_109590.3:p.Leu1699Phe