Canonical Allele Identifier: CA30488942
Community Standard Title: NM_005060.4(RORC):c.1485A>G (p.Gln495=)
Gene: RORC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151807544T>C , CM000663.2:g.151807544T>C GRCh38
NC_000001.10:g.151780020T>C , CM000663.1:g.151780020T>C GRCh37
NC_000001.9:g.150046644T>C NCBI36
NG_029118.1:g.29329A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005060.4:c.1485A>G MANE Select NP_005051.2:p.Gln495=
ENST00000318247.7:c.1485A>G MANE Select ENSP00000327025.6:p.Gln495=
NM_001001523.1:c.1422A>G NP_001001523.1:p.Gln474=
NM_001001523.2:c.1422A>G NP_001001523.1:p.Gln474=
NM_005060.3:c.1485A>G NP_005051.2:p.Gln495=
ENST00000318247.6:c.1485A>G ENSP00000327025.6:p.Gln495=
ENST00000356728.10:c.1422A>G ENSP00000349164.6:p.Gln474=
ENST00000356728.11:c.1422A>G ENSP00000349164.6:p.Gln474=
ENST00000480719.1:n.3555A>G
ENST00000638901.1:c.1676A>G
ENST00000651814.1:c.*442A>G ENSP00000498691.1:n.*442A>G
ENST00000651893.1:c.762A>G
ENST00000652040.2:c.1200A>G ENSP00000498548.2:p.Gln400=
ENST00000697811.1:c.*167A>G ENSP00000513447.1:n.*167A>G
XM_006711484.2:c.1884A>G XP_006711547.2:p.Gln628=
XM_006711484.4:c.1884A>G XP_006711547.2:p.Gln628=