Canonical Allele Identifier: CA435220197

Gene: NR1I2

Linked Data

• MyVariant Identifiers: chr3:g.119530483G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119811636G>T , CM000665.2:g.119811636G>T	GRCh38
NC_000003.11:g.119530483G>T , CM000665.1:g.119530483G>T	GRCh37
NC_000003.10:g.121013173G>T	NCBI36
NG_011856.1:g.36153G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000393716.8:c.429G>T MANE Select	ENSP00000377319.3:p.Leu143=
ENST00000466380.6:c.429G>T	ENSP00000420297.2:p.Leu143=
ENST00000337940.4:c.546G>T	ENSP00000336528.4:p.Leu182=
ENST00000393716.6:c.429G>T	ENSP00000377319.2:p.Leu143=
ENST00000466380.5:c.429G>T	ENSP00000420297.1:p.Leu143=
ENST00000493757.1:n.561G>T
NM_003889.3:c.429G>T	NP_003880.3:p.Leu143=
NM_022002.2:c.546G>T	NP_071285.1:p.Leu182=
NM_033013.2:c.429G>T	NP_148934.1:p.Leu143=
NM_003889.4:c.429G>T MANE Select	NP_003880.3:p.Leu143=
NM_022002.3:c.546G>T	NP_071285.1:p.Leu182=
NM_033013.3:c.429G>T	NP_148934.1:p.Leu143=