Canonical Allele Identifier: CA435219386
Gene: NR1I2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.119526163T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119807316T>A , CM000665.2:g.119807316T>A GRCh38
NC_000003.11:g.119526163T>A , CM000665.1:g.119526163T>A GRCh37
NC_000003.10:g.121008853T>A NCBI36
NG_011856.1:g.31833T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393716.8:c.66T>A MANE Select ENSP00000377319.3:p.Ser22=
ENST00000466380.6:c.66T>A ENSP00000420297.2:p.Ser22=
ENST00000648112.1:c.*89T>A ENSP00000497876.1:n.*89T>A
ENST00000337940.4:c.183T>A ENSP00000336528.4:p.Ser61=
ENST00000393716.6:c.66T>A ENSP00000377319.2:p.Ser22=
ENST00000466380.5:c.66T>A ENSP00000420297.1:p.Ser22=
ENST00000474090.1:n.354T>A
NM_003889.3:c.66T>A NP_003880.3:p.Ser22=
NM_022002.2:c.183T>A NP_071285.1:p.Ser61=
NM_033013.2:c.66T>A NP_148934.1:p.Ser22=
NM_003889.4:c.66T>A MANE Select NP_003880.3:p.Ser22=
NM_022002.3:c.183T>A NP_071285.1:p.Ser61=
NM_033013.3:c.66T>A NP_148934.1:p.Ser22=