Canonical Allele Identifier: CA12412394
Gene: RNF39 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.30073033T>G
GRCh37 chr6:g.30040810T>G
gnomAD v2:
6:30040810 T / G
gnomAD v3:
6:30073033 T / G
gnomAD v4:
chr6-30073033-T-G
Joint Max Group AF 0.2682319 (AFR)
Genomes Max Group AF 0.2700955 (AFR)
Exomes Max Group AF 0.25790838 (AFR)
dbSNP:
2074480
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30073033T>G , CM000668.2:g.30073033T>G GRCh38
NC_000006.11:g.30040810T>G , CM000668.1:g.30040810T>G GRCh37
NC_000006.10:g.30148789T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000244360.8:c.478+124A>C MANE Select ENSP00000244360.7:n.478+124A>C
ENST00000244360.7:c.478+124A>C ENSP00000244360.7:n.478+124A>C
ENST00000376751.8:c.478+124A>C ENSP00000365942.4:n.478+124A>C
ENST00000244360.6:c.682+124A>C ENSP00000244360.6:n.682+124A>C
ENST00000376751.7:c.682+124A>C ENSP00000365942.3:n.682+124A>C
NM_025236.3:c.682+124A>C NP_079512.2:n.682+124A>C
NM_170769.2:c.682+124A>C NP_739575.2:n.682+124A>C
XM_017011325.1:c.223+124A>C XP_016866814.1:n.223+124A>C
XM_017011326.1:c.682+124A>C XP_016866815.1:n.682+124A>C
NM_025236.4:c.478+124A>C MANE Select NP_079512.3:n.478+124A>C
NM_170769.3:c.478+124A>C NP_739575.3:n.478+124A>C
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