Canonical Allele Identifier: CA363054218

Gene: RNF39

Linked Data

• dbSNP Id: rs1765965684
• gnomAD v4: 6-30071472-C-G
• MyVariant Identifiers: chr6:g.30039249C>G (hg19) ; chr6:g.30071472C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30071472C>G , CM000668.2:g.30071472C>G	GRCh38
NC_000006.11:g.30039249C>G , CM000668.1:g.30039249C>G	GRCh37
NC_000006.10:g.30147228C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000244360.8:c.698G>C MANE Select	ENSP00000244360.7:p.Gly233Ala
ENST00000244360.7:c.698G>C	ENSP00000244360.7:p.Gly233Ala
ENST00000376751.8:c.698G>C	ENSP00000365942.4:p.Gly233Ala
ENST00000244360.6:c.902G>C	ENSP00000244360.6:p.Gly301Ala
ENST00000376751.7:c.902G>C	ENSP00000365942.3:p.Gly301Ala
NM_025236.3:c.902G>C	NP_079512.2:p.Gly301Ala
NM_170769.2:c.902G>C	NP_739575.2:p.Gly301Ala
XM_017011325.1:c.443G>C	XP_016866814.1:p.Gly148Ala
NM_025236.4:c.698G>C MANE Select	NP_079512.3:p.Gly233Ala
NM_170769.3:c.698G>C	NP_739575.3:p.Gly233Ala