Canonical Allele Identifier: CA366711957
Gene: RNF216 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5641366T>C , CM000669.2:g.5641366T>C GRCh38
NC_000007.13:g.5680997T>C , CM000669.1:g.5680997T>C GRCh37
NC_000007.12:g.5647523T>C NCBI36
NG_029374.1:g.145365A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389902.8:c.2170A>G MANE Select ENSP00000374552.3:p.Met724Val
ENST00000389900.8:c.*1287A>G ENSP00000374550.4:n.*1287A>G
ENST00000389902.7:c.2170A>G ENSP00000374552.3:p.Met724Val
ENST00000425013.6:c.1999A>G ENSP00000404602.2:p.Met667Val
ENST00000469375.1:n.387A>G
ENST00000484458.2:n.474A>G
NM_207111.3:c.2170A>G NP_996994.1:p.Met724Val
NM_207116.2:c.1999A>G NP_996999.1:p.Met667Val
XM_005249785.2:c.2170A>G XP_005249842.1:p.Met724Val
XM_006715748.1:c.865A>G XP_006715811.1:p.Met289Val
XM_011515434.1:c.2170A>G XP_011513736.1:p.Met724Val
XM_011515436.1:c.865A>G XP_011513738.1:p.Met289Val
XM_011515436.2:c.865A>G XP_011513738.1:p.Met289Val
XM_017012363.2:c.1999A>G XP_016867852.1:p.Met667Val
XM_024446805.1:c.2170A>G XP_024302573.1:p.Met724Val
XM_024446806.1:c.865A>G XP_024302574.1:p.Met289Val
XM_024446807.1:c.865A>G XP_024302575.1:p.Met289Val
NM_001377156.1:c.1999A>G NP_001364085.1:p.Met667Val
NM_207111.4:c.2170A>G MANE Select NP_996994.1:p.Met724Val
NM_207116.3:c.1999A>G NP_996999.1:p.Met667Val