Canonical Allele Identifier: CA354055995
Gene: NR1I2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119807411A>C , CM000665.2:g.119807411A>C GRCh38
NC_000003.11:g.119526258A>C , CM000665.1:g.119526258A>C GRCh37
NC_000003.10:g.121008948A>C NCBI36
NG_011856.1:g.31928A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393716.8:c.161A>C MANE Select ENSP00000377319.3:p.Asn54Thr
ENST00000466380.6:c.161A>C ENSP00000420297.2:p.Asn54Thr
ENST00000648112.1:c.*184A>C ENSP00000497876.1:n.*184A>C
ENST00000337940.4:c.278A>C ENSP00000336528.4:p.Asn93Thr
ENST00000393716.6:c.161A>C ENSP00000377319.2:p.Asn54Thr
ENST00000466380.5:c.161A>C ENSP00000420297.1:p.Asn54Thr
ENST00000474090.1:n.449A>C
NM_003889.3:c.161A>C NP_003880.3:p.Asn54Thr
NM_022002.2:c.278A>C NP_071285.1:p.Asn93Thr
NM_033013.2:c.161A>C NP_148934.1:p.Asn54Thr
NM_003889.4:c.161A>C MANE Select NP_003880.3:p.Asn54Thr
NM_022002.3:c.278A>C NP_071285.1:p.Asn93Thr
NM_033013.3:c.161A>C NP_148934.1:p.Asn54Thr