Canonical Allele Identifier: CA363054221

Gene: RNF39

Linked Data

• dbSNP Id: rs1441650291
• gnomAD v2: 6-30039250-C-T
• gnomAD v4: 6-30071473-C-T
• MyVariant Identifiers: chr6:g.30039250C>T (hg19) ; chr6:g.30071473C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30071473C>T , CM000668.2:g.30071473C>T	GRCh38
NC_000006.11:g.30039250C>T , CM000668.1:g.30039250C>T	GRCh37
NC_000006.10:g.30147229C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000244360.8:c.697G>A MANE Select	ENSP00000244360.7:p.Gly233Arg
ENST00000244360.7:c.697G>A	ENSP00000244360.7:p.Gly233Arg
ENST00000376751.8:c.697G>A	ENSP00000365942.4:p.Gly233Arg
ENST00000244360.6:c.901G>A	ENSP00000244360.6:p.Gly301Arg
ENST00000376751.7:c.901G>A	ENSP00000365942.3:p.Gly301Arg
NM_025236.3:c.901G>A	NP_079512.2:p.Gly301Arg
NM_170769.2:c.901G>A	NP_739575.2:p.Gly301Arg
XM_017011325.1:c.442G>A	XP_016866814.1:p.Gly148Arg
NM_025236.4:c.697G>A MANE Select	NP_079512.3:p.Gly233Arg
NM_170769.3:c.697G>A	NP_739575.3:p.Gly233Arg