Canonical Allele Identifier: CA354055934
Gene: NR1I2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000393716.8:c.143C>G MANE Select ENSP00000377319.3:p.Ala48Gly
ENST00000466380.6:c.143C>G ENSP00000420297.2:p.Ala48Gly
ENST00000648112.1:c.*166C>G ENSP00000497876.1:n.*166C>G
ENST00000337940.4:c.260C>G ENSP00000336528.4:p.Ala87Gly
ENST00000393716.6:c.143C>G ENSP00000377319.2:p.Ala48Gly
ENST00000466380.5:c.143C>G ENSP00000420297.1:p.Ala48Gly
ENST00000474090.1:n.431C>G
NM_003889.3:c.143C>G NP_003880.3:p.Ala48Gly
NM_022002.2:c.260C>G NP_071285.1:p.Ala87Gly
NM_033013.2:c.143C>G NP_148934.1:p.Ala48Gly
NM_003889.4:c.143C>G MANE Select NP_003880.3:p.Ala48Gly
NM_022002.3:c.260C>G NP_071285.1:p.Ala87Gly
NM_033013.3:c.143C>G NP_148934.1:p.Ala48Gly