Canonical Allele Identifier: CA354058236

Gene: NR1I2

Linked Data

• MyVariant Identifiers: chr3:g.119530484A>T (hg19) ; chr3:g.119811637A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119811637A>T , CM000665.2:g.119811637A>T	GRCh38
NC_000003.11:g.119530484A>T , CM000665.1:g.119530484A>T	GRCh37
NC_000003.10:g.121013174A>T	NCBI36
NG_011856.1:g.36154A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000393716.8:c.430A>T MANE Select	ENSP00000377319.3:p.Thr144Ser
ENST00000466380.6:c.430A>T	ENSP00000420297.2:p.Thr144Ser
ENST00000337940.4:c.547A>T	ENSP00000336528.4:p.Thr183Ser
ENST00000393716.6:c.430A>T	ENSP00000377319.2:p.Thr144Ser
ENST00000466380.5:c.430A>T	ENSP00000420297.1:p.Thr144Ser
ENST00000493757.1:n.562A>T
NM_003889.3:c.430A>T	NP_003880.3:p.Thr144Ser
NM_022002.2:c.547A>T	NP_071285.1:p.Thr183Ser
NM_033013.2:c.430A>T	NP_148934.1:p.Thr144Ser
NM_003889.4:c.430A>T MANE Select	NP_003880.3:p.Thr144Ser
NM_022002.3:c.547A>T	NP_071285.1:p.Thr183Ser
NM_033013.3:c.430A>T	NP_148934.1:p.Thr144Ser