Canonical Allele Identifier: CA4148648

Gene: RNF216

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5752964C>T , CM000669.2:g.5752964C>T	GRCh38
NC_000007.13:g.5792595C>T , CM000669.1:g.5792595C>T	GRCh37
NC_000007.12:g.5759121C>T	NCBI36
NG_029374.1:g.33767G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_207111.4:c.83G>A MANE Select	NP_996994.1:p.Arg28Gln
ENST00000389902.8:c.83G>A MANE Select	ENSP00000374552.3:p.Arg28Gln
NM_001377156.1:c.83G>A	NP_001364085.1:p.Arg28Gln
NM_207111.3:c.83G>A	NP_996994.1:p.Arg28Gln
NM_207116.2:c.83G>A	NP_996999.1:p.Arg28Gln
NM_207116.3:c.83G>A	NP_996999.1:p.Arg28Gln
ENST00000389900.8:c.83G>A	ENSP00000374550.4:p.Arg28Gln
ENST00000389902.7:c.83G>A	ENSP00000374552.3:p.Arg28Gln
ENST00000411812.1:c.*54G>A	ENSP00000409837.1:n.*54G>A
ENST00000425013.6:c.83G>A	ENSP00000404602.2:p.Arg28Gln
XM_005249785.2:c.83G>A	XP_005249842.1:p.Arg28Gln
XM_011515434.1:c.83G>A	XP_011513736.1:p.Arg28Gln
XM_011515435.1:c.83G>A	XP_011513737.1:p.Arg28Gln
XM_011515436.2:c.-1321G>A	XP_011513738.1:n.-1321G>A
XM_017012363.2:c.83G>A	XP_016867852.1:p.Arg28Gln
XM_017012364.2:c.83G>A	XP_016867853.1:p.Arg28Gln
XM_024446805.1:c.83G>A	XP_024302573.1:p.Arg28Gln
XM_024446806.1:c.-1496G>A	XP_024302574.1:n.-1496G>A
XM_024446807.1:c.-1325G>A	XP_024302575.1:n.-1325G>A
XR_242090.1:n.315G>A