Canonical Allele Identifier: CA342008520
Community Standard Title: NM_005060.4(RORC):c.1426T>A (p.Cys476Ser)
Gene: RORC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151807603A>T , CM000663.2:g.151807603A>T GRCh38
NC_000001.10:g.151780079A>T , CM000663.1:g.151780079A>T GRCh37
NC_000001.9:g.150046703A>T NCBI36
NG_029118.1:g.29270T>A

Transcript Alleles

HGVS Amino-acid Change
NM_005060.4:c.1426T>A MANE Select NP_005051.2:p.Cys476Ser
ENST00000318247.7:c.1426T>A MANE Select ENSP00000327025.6:p.Cys476Ser
NM_001001523.1:c.1363T>A NP_001001523.1:p.Cys455Ser
NM_001001523.2:c.1363T>A NP_001001523.1:p.Cys455Ser
NM_005060.3:c.1426T>A NP_005051.2:p.Cys476Ser
ENST00000318247.6:c.1426T>A ENSP00000327025.6:p.Cys476Ser
ENST00000356728.10:c.1363T>A ENSP00000349164.6:p.Cys455Ser
ENST00000356728.11:c.1363T>A ENSP00000349164.6:p.Cys455Ser
ENST00000480719.1:n.3496T>A
ENST00000638901.1:c.1617T>A
ENST00000651814.1:c.*383T>A ENSP00000498691.1:n.*383T>A
ENST00000651893.1:c.703T>A
ENST00000652040.2:c.1141T>A ENSP00000498548.2:p.Cys381Ser
ENST00000697811.1:c.*108T>A ENSP00000513447.1:n.*108T>A
XM_006711484.2:c.1825T>A XP_006711547.2:p.Cys609Ser
XM_006711484.4:c.1825T>A XP_006711547.2:p.Cys609Ser
XR_426792.2:n.2187T>A