Canonical Allele Identifier: CA366737827

Gene: RNF216

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5741816C>G , CM000669.2:g.5741816C>G	GRCh38
NC_000007.13:g.5781447C>G , CM000669.1:g.5781447C>G	GRCh37
NC_000007.12:g.5747973C>G	NCBI36
NG_029374.1:g.44915G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_207111.4:c.202-1G>C MANE Select	NP_996994.1:n.202-1G>C
ENST00000389902.8:c.202-1G>C MANE Select	ENSP00000374552.3:n.202-1G>C
NM_001377156.1:c.202-172G>C	NP_001364085.1:n.202-172G>C
NM_207111.3:c.202-1G>C	NP_996994.1:n.202-1G>C
NM_207116.2:c.202-172G>C	NP_996999.1:n.202-172G>C
NM_207116.3:c.202-172G>C	NP_996999.1:n.202-172G>C
ENST00000389900.8:c.202-172G>C	ENSP00000374550.4:n.202-172G>C
ENST00000389902.7:c.202-1G>C	ENSP00000374552.3:n.202-1G>C
ENST00000411812.1:c.*173-172G>C	ENSP00000409837.1:n.*173-172G>C
ENST00000425013.6:c.202-172G>C	ENSP00000404602.2:n.202-172G>C
XM_005249785.2:c.202-1G>C	XP_005249842.1:n.202-1G>C
XM_006715748.1:c.-1206-172G>C	XP_006715811.1:n.-1206-172G>C
XM_011515434.1:c.202-1G>C	XP_011513736.1:n.202-1G>C
XM_011515435.1:c.202-1G>C	XP_011513737.1:n.202-1G>C
XM_011515436.1:c.-1202-172G>C	XP_011513738.1:n.-1202-172G>C
XM_011515436.2:c.-1202-172G>C	XP_011513738.1:n.-1202-172G>C
XM_017012363.2:c.202-172G>C	XP_016867852.1:n.202-172G>C
XM_017012364.2:c.202-1G>C	XP_016867853.1:n.202-1G>C
XM_024446805.1:c.202-1G>C	XP_024302573.1:n.202-1G>C
XM_024446806.1:c.-1377-1G>C	XP_024302574.1:n.-1377-1G>C
XM_024446807.1:c.-1206-172G>C	XP_024302575.1:n.-1206-172G>C
XR_242090.1:n.434-1G>C