Canonical Allele Identifier: CA81752756

Gene: NR1I2

Linked Data

• dbSNP Id: rs912666496
• MyVariant Identifiers: chr3:g.119530489G>A (hg19) ; chr3:g.119811642G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119811642G>A , CM000665.2:g.119811642G>A	GRCh38
NC_000003.11:g.119530489G>A , CM000665.1:g.119530489G>A	GRCh37
NC_000003.10:g.121013179G>A	NCBI36
NG_011856.1:g.36159G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.435G>A MANE Select	ENSP00000377319.3:p.Glu145=
ENST00000466380.6:c.435G>A	ENSP00000420297.2:p.Glu145=
ENST00000337940.4:c.552G>A	ENSP00000336528.4:p.Glu184=
ENST00000393716.6:c.435G>A	ENSP00000377319.2:p.Glu145=
ENST00000466380.5:c.435G>A	ENSP00000420297.1:p.Glu145=
ENST00000493757.1:n.567G>A
NM_003889.3:c.435G>A	NP_003880.3:p.Glu145=
NM_022002.2:c.552G>A	NP_071285.1:p.Glu184=
NM_033013.2:c.435G>A	NP_148934.1:p.Glu145=
NM_003889.4:c.435G>A MANE Select	NP_003880.3:p.Glu145=
NM_022002.3:c.552G>A	NP_071285.1:p.Glu184=
NM_033013.3:c.435G>A	NP_148934.1:p.Glu145=