Canonical Allele Identifier: CA1095653
Community Standard Title: NM_005060.4(RORC):c.1427G>C (p.Cys476Ser)
Gene: RORC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151807602C>G , CM000663.2:g.151807602C>G GRCh38
NC_000001.10:g.151780078C>G , CM000663.1:g.151780078C>G GRCh37
NC_000001.9:g.150046702C>G NCBI36
NG_029118.1:g.29271G>C

Transcript Alleles

HGVS Amino-acid Change
NM_005060.4:c.1427G>C MANE Select NP_005051.2:p.Cys476Ser
ENST00000318247.7:c.1427G>C MANE Select ENSP00000327025.6:p.Cys476Ser
NM_001001523.1:c.1364G>C NP_001001523.1:p.Cys455Ser
NM_001001523.2:c.1364G>C NP_001001523.1:p.Cys455Ser
NM_005060.3:c.1427G>C NP_005051.2:p.Cys476Ser
ENST00000318247.6:c.1427G>C ENSP00000327025.6:p.Cys476Ser
ENST00000356728.10:c.1364G>C ENSP00000349164.6:p.Cys455Ser
ENST00000356728.11:c.1364G>C ENSP00000349164.6:p.Cys455Ser
ENST00000480719.1:n.3497G>C
ENST00000638901.1:c.1618G>C
ENST00000651814.1:c.*384G>C ENSP00000498691.1:n.*384G>C
ENST00000651893.1:c.704G>C
ENST00000652040.2:c.1142G>C ENSP00000498548.2:p.Cys381Ser
ENST00000697811.1:c.*109G>C ENSP00000513447.1:n.*109G>C
XM_006711484.2:c.1826G>C XP_006711547.2:p.Cys609Ser
XM_006711484.4:c.1826G>C XP_006711547.2:p.Cys609Ser
XR_426792.2:n.2188G>C