Canonical Allele Identifier: CA435219586
Gene: NR1I2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.119526268A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119807421A>T , CM000665.2:g.119807421A>T GRCh38
NC_000003.11:g.119526268A>T , CM000665.1:g.119526268A>T GRCh37
NC_000003.10:g.121008958A>T NCBI36
NG_011856.1:g.31938A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393716.8:c.171A>T MANE Select ENSP00000377319.3:p.Thr57=
ENST00000466380.6:c.171A>T ENSP00000420297.2:p.Thr57=
ENST00000648112.1:c.*194A>T ENSP00000497876.1:n.*194A>T
ENST00000337940.4:c.288A>T ENSP00000336528.4:p.Thr96=
ENST00000393716.6:c.171A>T ENSP00000377319.2:p.Thr57=
ENST00000466380.5:c.171A>T ENSP00000420297.1:p.Thr57=
ENST00000474090.1:n.459A>T
NM_003889.3:c.171A>T NP_003880.3:p.Thr57=
NM_022002.2:c.288A>T NP_071285.1:p.Thr96=
NM_033013.2:c.171A>T NP_148934.1:p.Thr57=
NM_003889.4:c.171A>T MANE Select NP_003880.3:p.Thr57=
NM_022002.3:c.288A>T NP_071285.1:p.Thr96=
NM_033013.3:c.171A>T NP_148934.1:p.Thr57=