Canonical Allele Identifier: CA354056140

Gene: NR1I2

Linked Data

• gnomAD v4: 3-119807441-T-A
• MyVariant Identifiers: chr3:g.119526288T>A (hg19) ; chr3:g.119807441T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807441T>A , CM000665.2:g.119807441T>A	GRCh38
NC_000003.11:g.119526288T>A , CM000665.1:g.119526288T>A	GRCh37
NC_000003.10:g.121008978T>A	NCBI36
NG_011856.1:g.31958T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.191T>A MANE Select	ENSP00000377319.3:p.Phe64Tyr
ENST00000466380.6:c.191T>A	ENSP00000420297.2:p.Phe64Tyr
ENST00000648112.1:c.*214T>A	ENSP00000497876.1:n.*214T>A
ENST00000337940.4:c.308T>A	ENSP00000336528.4:p.Phe103Tyr
ENST00000393716.6:c.191T>A	ENSP00000377319.2:p.Phe64Tyr
ENST00000466380.5:c.191T>A	ENSP00000420297.1:p.Phe64Tyr
ENST00000474090.1:n.479T>A
NM_003889.3:c.191T>A	NP_003880.3:p.Phe64Tyr
NM_022002.2:c.308T>A	NP_071285.1:p.Phe103Tyr
NM_033013.2:c.191T>A	NP_148934.1:p.Phe64Tyr
NM_003889.4:c.191T>A MANE Select	NP_003880.3:p.Phe64Tyr
NM_022002.3:c.308T>A	NP_071285.1:p.Phe103Tyr
NM_033013.3:c.191T>A	NP_148934.1:p.Phe64Tyr