Canonical Allele Identifier: CA1396723516
Gene: NR1I2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119807393C= , CM000665.2:g.119807393C= GRCh38
NC_000003.11:g.119526240C= , CM000665.1:g.119526240C= GRCh37
NC_000003.10:g.121008930C= NCBI36
NG_011856.1:g.31910C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000393716.8:c.143C= MANE Select ENSP00000377319.3:p.Ala48=
ENST00000466380.6:c.143C= ENSP00000420297.2:p.Ala48=
ENST00000648112.1:c.*166C= ENSP00000497876.1:n.*166C=
ENST00000337940.4:c.260C= ENSP00000336528.4:p.Ala87=
ENST00000393716.6:c.143C= ENSP00000377319.2:p.Ala48=
ENST00000466380.5:c.143C= ENSP00000420297.1:p.Ala48=
ENST00000474090.1:n.431C=
NM_003889.3:c.143C= NP_003880.3:p.Ala48=
NM_022002.2:c.260C= NP_071285.1:p.Ala87=
NM_033013.2:c.143C= NP_148934.1:p.Ala48=
NM_003889.4:c.143C= MANE Select NP_003880.3:p.Ala48=
NM_022002.3:c.260C= NP_071285.1:p.Ala87=
NM_033013.3:c.143C= NP_148934.1:p.Ala48=