Canonical Allele Identifier: CA366711941
Gene: RNF216 HGNC NCBI

Linked Data

gnomAD v4: 7-5641360-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5641360C>A , CM000669.2:g.5641360C>A GRCh38
NC_000007.13:g.5680991C>A , CM000669.1:g.5680991C>A GRCh37
NC_000007.12:g.5647517C>A NCBI36
NG_029374.1:g.145371G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389902.8:c.2176G>T MANE Select ENSP00000374552.3:p.Ala726Ser
ENST00000389900.8:c.*1293G>T ENSP00000374550.4:n.*1293G>T
ENST00000389902.7:c.2176G>T ENSP00000374552.3:p.Ala726Ser
ENST00000425013.6:c.2005G>T ENSP00000404602.2:p.Ala669Ser
ENST00000469375.1:n.393G>T
ENST00000484458.2:n.480G>T
NM_207111.3:c.2176G>T NP_996994.1:p.Ala726Ser
NM_207116.2:c.2005G>T NP_996999.1:p.Ala669Ser
XM_005249785.2:c.2176G>T XP_005249842.1:p.Ala726Ser
XM_006715748.1:c.871G>T XP_006715811.1:p.Ala291Ser
XM_011515434.1:c.2176G>T XP_011513736.1:p.Ala726Ser
XM_011515436.1:c.871G>T XP_011513738.1:p.Ala291Ser
XM_011515436.2:c.871G>T XP_011513738.1:p.Ala291Ser
XM_017012363.2:c.2005G>T XP_016867852.1:p.Ala669Ser
XM_024446805.1:c.2176G>T XP_024302573.1:p.Ala726Ser
XM_024446806.1:c.871G>T XP_024302574.1:p.Ala291Ser
XM_024446807.1:c.871G>T XP_024302575.1:p.Ala291Ser
NM_001377156.1:c.2005G>T NP_001364085.1:p.Ala669Ser
NM_207111.4:c.2176G>T MANE Select NP_996994.1:p.Ala726Ser
NM_207116.3:c.2005G>T NP_996999.1:p.Ala669Ser