Canonical Allele Identifier: CA342014036

Gene: RORC

Linked Data

• ClinVar Variation Id: 1929489
• ClinVar RCV Id: RCV002618679
• MyVariant Identifiers: chr1:g.151787067T>A (hg19) ; chr1:g.151814591T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151814591T>A , CM000663.2:g.151814591T>A	GRCh38
NC_000001.10:g.151787067T>A , CM000663.1:g.151787067T>A	GRCh37
NC_000001.9:g.150053691T>A	NCBI36
NG_029118.1:g.22282A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652040.2:c.631A>T	ENSP00000498548.2:p.Thr211Ser
ENST00000697811.1:c.916A>T	ENSP00000513447.1:p.Thr306Ser
ENST00000697812.1:n.54A>T
ENST00000697813.1:n.911A>T
ENST00000318247.7:c.916A>T MANE Select	ENSP00000327025.6:p.Thr306Ser
ENST00000356728.11:c.853A>T	ENSP00000349164.6:p.Thr285Ser
ENST00000638901.1:c.1107A>T
ENST00000651814.1:c.916A>T	ENSP00000498691.1:p.Thr306Ser
ENST00000651893.1:c.326A>T
ENST00000318247.6:c.916A>T	ENSP00000327025.6:p.Thr306Ser
ENST00000356728.10:c.853A>T	ENSP00000349164.6:p.Thr285Ser
ENST00000480719.1:n.199A>T
NM_001001523.1:c.853A>T	NP_001001523.1:p.Thr285Ser
NM_005060.3:c.916A>T	NP_005051.2:p.Thr306Ser
XM_006711484.2:c.1315A>T	XP_006711547.2:p.Thr439Ser
XR_426792.2:n.1595A>T
XM_006711484.4:c.1315A>T	XP_006711547.2:p.Thr439Ser
NM_005060.4:c.916A>T MANE Select	NP_005051.2:p.Thr306Ser
NM_001001523.2:c.853A>T	NP_001001523.1:p.Thr285Ser