Canonical Allele Identifier: CA354055882

Gene: NR1I2

Linked Data

• gnomAD v4: 3-119807378-T-G
• MyVariant Identifiers: chr3:g.119526225T>G (hg19) ; chr3:g.119807378T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807378T>G , CM000665.2:g.119807378T>G	GRCh38
NC_000003.11:g.119526225T>G , CM000665.1:g.119526225T>G	GRCh37
NC_000003.10:g.121008915T>G	NCBI36
NG_011856.1:g.31895T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.128T>G MANE Select	ENSP00000377319.3:p.Val43Gly
ENST00000466380.6:c.128T>G	ENSP00000420297.2:p.Val43Gly
ENST00000648112.1:c.*151T>G	ENSP00000497876.1:n.*151T>G
ENST00000337940.4:c.245T>G	ENSP00000336528.4:p.Val82Gly
ENST00000393716.6:c.128T>G	ENSP00000377319.2:p.Val43Gly
ENST00000466380.5:c.128T>G	ENSP00000420297.1:p.Val43Gly
ENST00000474090.1:n.416T>G
NM_003889.3:c.128T>G	NP_003880.3:p.Val43Gly
NM_022002.2:c.245T>G	NP_071285.1:p.Val82Gly
NM_033013.2:c.128T>G	NP_148934.1:p.Val43Gly
NM_003889.4:c.128T>G MANE Select	NP_003880.3:p.Val43Gly
NM_022002.3:c.245T>G	NP_071285.1:p.Val82Gly
NM_033013.3:c.128T>G	NP_148934.1:p.Val43Gly