Canonical Allele Identifier: CA2558099

Gene: NR1I2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119815779G>A , CM000665.2:g.119815779G>A	GRCh38
NC_000003.11:g.119534626G>A , CM000665.1:g.119534626G>A	GRCh37
NC_000003.10:g.121017316G>A	NCBI36
NG_011856.1:g.40296G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.1108G>A MANE Select	ENSP00000377319.3:p.Ala370Thr
ENST00000466380.6:c.997G>A	ENSP00000420297.2:p.Ala333Thr
ENST00000337940.4:c.1225G>A	ENSP00000336528.4:p.Ala409Thr
ENST00000393716.6:c.1108G>A	ENSP00000377319.2:p.Ala370Thr
ENST00000466380.5:c.997G>A	ENSP00000420297.1:p.Ala333Thr
ENST00000493757.1:n.1240G>A
NM_003889.3:c.1108G>A	NP_003880.3:p.Ala370Thr
NM_022002.2:c.1225G>A	NP_071285.1:p.Ala409Thr
NM_033013.2:c.997G>A	NP_148934.1:p.Ala333Thr
NM_003889.4:c.1108G>A MANE Select	NP_003880.3:p.Ala370Thr
NM_022002.3:c.1225G>A	NP_071285.1:p.Ala409Thr
NM_033013.3:c.997G>A	NP_148934.1:p.Ala333Thr