Canonical Allele Identifier: CA354055455

Gene: NR1I2

Linked Data

• gnomAD v4: 3-119807263-C-G
• MyVariant Identifiers: chr3:g.119526110C>G (hg19) ; chr3:g.119807263C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807263C>G , CM000665.2:g.119807263C>G	GRCh38
NC_000003.11:g.119526110C>G , CM000665.1:g.119526110C>G	GRCh37
NC_000003.10:g.121008800C>G	NCBI36
NG_011856.1:g.31780C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000393716.8:c.13C>G MANE Select	ENSP00000377319.3:p.Pro5Ala
ENST00000466380.6:c.13C>G	ENSP00000420297.2:p.Pro5Ala
ENST00000648112.1:c.*36C>G	ENSP00000497876.1:n.*36C>G
ENST00000337940.4:c.130C>G	ENSP00000336528.4:p.Pro44Ala
ENST00000393716.6:c.13C>G	ENSP00000377319.2:p.Pro5Ala
ENST00000466380.5:c.13C>G	ENSP00000420297.1:p.Pro5Ala
ENST00000474090.1:n.301C>G
NM_003889.3:c.13C>G	NP_003880.3:p.Pro5Ala
NM_022002.2:c.130C>G	NP_071285.1:p.Pro44Ala
NM_033013.2:c.13C>G	NP_148934.1:p.Pro5Ala
NM_003889.4:c.13C>G MANE Select	NP_003880.3:p.Pro5Ala
NM_022002.3:c.130C>G	NP_071285.1:p.Pro44Ala
NM_033013.3:c.13C>G	NP_148934.1:p.Pro5Ala