Canonical Allele Identifier: CA354055378
Gene: NR1I2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119807248A>T , CM000665.2:g.119807248A>T GRCh38
NC_000003.11:g.119526095A>T , CM000665.1:g.119526095A>T GRCh37
NC_000003.10:g.121008785A>T NCBI36
NG_011856.1:g.31765A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393716.8:c.-3A>T MANE Select ENSP00000377319.3:n.-3A>T
ENST00000466380.6:c.-3A>T ENSP00000420297.2:n.-3A>T
ENST00000648112.1:c.*21A>T ENSP00000497876.1:n.*21A>T
ENST00000337940.4:c.115A>T ENSP00000336528.4:p.Asn39Tyr
ENST00000393716.6:c.-3A>T ENSP00000377319.2:n.-3A>T
ENST00000466380.5:c.-3A>T ENSP00000420297.1:n.-3A>T
ENST00000474090.1:n.286A>T
NM_003889.3:c.-3A>T NP_003880.3:n.-3A>T
NM_022002.2:c.115A>T NP_071285.1:p.Asn39Tyr
NM_033013.2:c.-3A>T NP_148934.1:n.-3A>T
NM_003889.4:c.-3A>T MANE Select NP_003880.3:n.-3A>T
NM_022002.3:c.115A>T NP_071285.1:p.Asn39Tyr
NM_033013.3:c.-3A>T NP_148934.1:n.-3A>T