Canonical Allele Identifier: CA1396725563
Community Standard Title: NM_003889.4(NR1I2):c.443G= (p.Arg148=)
Gene: NR1I2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119811650G= , CM000665.2:g.119811650G= GRCh38
NC_000003.11:g.119530497G= , CM000665.1:g.119530497G= GRCh37
NC_000003.10:g.121013187G= NCBI36
NG_011856.1:g.36167G=

Transcript Alleles

HGVS Amino-acid Change
NM_003889.4:c.443G= MANE Select NP_003880.3:p.Arg148=
ENST00000393716.8:c.443G= MANE Select ENSP00000377319.3:p.Arg148=
NM_003889.3:c.443G= NP_003880.3:p.Arg148=
NM_022002.2:c.560G= NP_071285.1:p.Arg187=
NM_022002.3:c.560G= NP_071285.1:p.Arg187=
NM_033013.2:c.443G= NP_148934.1:p.Arg148=
NM_033013.3:c.443G= NP_148934.1:p.Arg148=
ENST00000337940.4:c.560G= ENSP00000336528.4:p.Arg187=
ENST00000393716.6:c.443G= ENSP00000377319.2:p.Arg148=
ENST00000466380.5:c.443G= ENSP00000420297.1:p.Arg148=
ENST00000466380.6:c.443G= ENSP00000420297.2:p.Arg148=
ENST00000493757.1:n.575G=