Canonical Allele Identifier: CA1095750
Community Standard Title: NM_005060.4(RORC):c.1120C>T (p.Arg374Cys)
Gene: RORC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151813293G>A , CM000663.2:g.151813293G>A GRCh38
NC_000001.10:g.151785769G>A , CM000663.1:g.151785769G>A GRCh37
NC_000001.9:g.150052393G>A NCBI36
NG_029118.1:g.23580C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005060.4:c.1120C>T MANE Select NP_005051.2:p.Arg374Cys
ENST00000318247.7:c.1120C>T MANE Select ENSP00000327025.6:p.Arg374Cys
NM_001001523.1:c.1057C>T NP_001001523.1:p.Arg353Cys
NM_001001523.2:c.1057C>T NP_001001523.1:p.Arg353Cys
NM_005060.3:c.1120C>T NP_005051.2:p.Arg374Cys
ENST00000318247.6:c.1120C>T ENSP00000327025.6:p.Arg374Cys
ENST00000356728.10:c.1057C>T ENSP00000349164.6:p.Arg353Cys
ENST00000356728.11:c.1057C>T ENSP00000349164.6:p.Arg353Cys
ENST00000480719.1:n.1497C>T
ENST00000638901.1:c.1311C>T
ENST00000651814.1:c.*77C>T ENSP00000498691.1:n.*77C>T
ENST00000651893.1:c.397C>T
ENST00000652040.2:c.835C>T ENSP00000498548.2:p.Arg279Cys
ENST00000697811.1:c.933+1281C>T ENSP00000513447.1:n.933+1281C>T
ENST00000697812.1:n.258C>T
ENST00000697813.1:n.1115C>T
XM_006711484.2:c.1519C>T XP_006711547.2:p.Arg507Cys
XM_006711484.4:c.1519C>T XP_006711547.2:p.Arg507Cys
XR_426792.2:n.1881C>T