Canonical Allele Identifier: CA1685038015
Gene: RNF216 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5641289A= , CM000669.2:g.5641289A= GRCh38
NC_000007.13:g.5680920A= , CM000669.1:g.5680920A= GRCh37
NC_000007.12:g.5647446A= NCBI36
NG_029374.1:g.145442T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000389902.8:c.2247T= MANE Select ENSP00000374552.3:p.Ser749=
ENST00000389900.8:c.*1364T= ENSP00000374550.4:n.*1364T=
ENST00000389902.7:c.2247T= ENSP00000374552.3:p.Ser749=
ENST00000425013.6:c.2076T= ENSP00000404602.2:p.Ser692=
ENST00000469375.1:n.464T=
NM_207111.3:c.2247T= NP_996994.1:p.Ser749=
NM_207116.2:c.2076T= NP_996999.1:p.Ser692=
XM_005249785.2:c.2247T= XP_005249842.1:p.Ser749=
XM_006715748.1:c.942T= XP_006715811.1:p.Ser314=
XM_011515434.1:c.2247T= XP_011513736.1:p.Ser749=
XM_011515436.1:c.942T= XP_011513738.1:p.Ser314=
XM_011515436.2:c.942T= XP_011513738.1:p.Ser314=
XM_017012363.2:c.2076T= XP_016867852.1:p.Ser692=
XM_024446805.1:c.2247T= XP_024302573.1:p.Ser749=
XM_024446806.1:c.942T= XP_024302574.1:p.Ser314=
XM_024446807.1:c.942T= XP_024302575.1:p.Ser314=
NM_001377156.1:c.2076T= NP_001364085.1:p.Ser692=
NM_207111.4:c.2247T= MANE Select NP_996994.1:p.Ser749=
NM_207116.3:c.2076T= NP_996999.1:p.Ser692=