Canonical Allele Identifier: CA354055439

Gene: NR1I2

Linked Data

• MyVariant Identifiers: chr3:g.119526105T>C (hg19) ; chr3:g.119807258T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807258T>C , CM000665.2:g.119807258T>C	GRCh38
NC_000003.11:g.119526105T>C , CM000665.1:g.119526105T>C	GRCh37
NC_000003.10:g.121008795T>C	NCBI36
NG_011856.1:g.31775T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000393716.8:c.8T>C MANE Select	ENSP00000377319.3:p.Val3Ala
ENST00000466380.6:c.8T>C	ENSP00000420297.2:p.Val3Ala
ENST00000648112.1:c.*31T>C	ENSP00000497876.1:n.*31T>C
ENST00000337940.4:c.125T>C	ENSP00000336528.4:p.Val42Ala
ENST00000393716.6:c.8T>C	ENSP00000377319.2:p.Val3Ala
ENST00000466380.5:c.8T>C	ENSP00000420297.1:p.Val3Ala
ENST00000474090.1:n.296T>C
NM_003889.3:c.8T>C	NP_003880.3:p.Val3Ala
NM_022002.2:c.125T>C	NP_071285.1:p.Val42Ala
NM_033013.2:c.8T>C	NP_148934.1:p.Val3Ala
NM_003889.4:c.8T>C MANE Select	NP_003880.3:p.Val3Ala
NM_022002.3:c.125T>C	NP_071285.1:p.Val42Ala
NM_033013.3:c.8T>C	NP_148934.1:p.Val3Ala