Canonical Allele Identifier: CA4148072

Gene: RNF216

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5715169G>A , CM000669.2:g.5715169G>A	GRCh38
NC_000007.13:g.5754800G>A , CM000669.1:g.5754800G>A	GRCh37
NC_000007.12:g.5721326G>A	NCBI36
NG_029374.1:g.71562C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_207111.4:c.1717C>T MANE Select	NP_996994.1:p.Arg573Cys
ENST00000389902.8:c.1717C>T MANE Select	ENSP00000374552.3:p.Arg573Cys
NM_001377156.1:c.1546C>T	NP_001364085.1:p.Arg516Cys
NM_207111.3:c.1717C>T	NP_996994.1:p.Arg573Cys
NM_207116.2:c.1546C>T	NP_996999.1:p.Arg516Cys
NM_207116.3:c.1546C>T	NP_996999.1:p.Arg516Cys
ENST00000389900.8:c.*834C>T	ENSP00000374550.4:n.*834C>T
ENST00000389902.7:c.1717C>T	ENSP00000374552.3:p.Arg573Cys
ENST00000425013.6:c.1546C>T	ENSP00000404602.2:p.Arg516Cys
XM_005249785.2:c.1717C>T	XP_005249842.1:p.Arg573Cys
XM_006715748.1:c.412C>T	XP_006715811.1:p.Arg138Cys
XM_011515434.1:c.1717C>T	XP_011513736.1:p.Arg573Cys
XM_011515435.1:c.1717C>T	XP_011513737.1:p.Arg573Cys
XM_011515436.1:c.412C>T	XP_011513738.1:p.Arg138Cys
XM_011515436.2:c.412C>T	XP_011513738.1:p.Arg138Cys
XM_017012363.2:c.1546C>T	XP_016867852.1:p.Arg516Cys
XM_017012364.2:c.1717C>T	XP_016867853.1:p.Arg573Cys
XM_024446805.1:c.1717C>T	XP_024302573.1:p.Arg573Cys
XM_024446806.1:c.412C>T	XP_024302574.1:p.Arg138Cys
XM_024446807.1:c.412C>T	XP_024302575.1:p.Arg138Cys
XR_242090.1:n.1809C>T