Canonical Allele Identifier: CA354055296

Gene: NR1I2

Linked Data

• gnomAD v4: 3-119807234-G-A
• MyVariant Identifiers: chr3:g.119526081G>A (hg19) ; chr3:g.119807234G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807234G>A , CM000665.2:g.119807234G>A	GRCh38
NC_000003.11:g.119526081G>A , CM000665.1:g.119526081G>A	GRCh37
NC_000003.10:g.121008771G>A	NCBI36
NG_011856.1:g.31751G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.-17G>A MANE Select	ENSP00000377319.3:n.-17G>A
ENST00000466380.6:c.-17G>A	ENSP00000420297.2:n.-17G>A
ENST00000648112.1:c.*7G>A	ENSP00000497876.1:n.*7G>A
ENST00000337940.4:c.101G>A	ENSP00000336528.4:p.Arg34Lys
ENST00000393716.6:c.-17G>A	ENSP00000377319.2:n.-17G>A
ENST00000466380.5:c.-17G>A	ENSP00000420297.1:n.-17G>A
ENST00000474090.1:n.272G>A
NM_003889.3:c.-17G>A	NP_003880.3:n.-17G>A
NM_022002.2:c.101G>A	NP_071285.1:p.Arg34Lys
NM_033013.2:c.-17G>A	NP_148934.1:n.-17G>A
NM_003889.4:c.-17G>A MANE Select	NP_003880.3:n.-17G>A
NM_022002.3:c.101G>A	NP_071285.1:p.Arg34Lys
NM_033013.3:c.-17G>A	NP_148934.1:n.-17G>A