Canonical Allele Identifier: CA435219243
Gene: NR1I2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.119526121C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119807274C>T , CM000665.2:g.119807274C>T GRCh38
NC_000003.11:g.119526121C>T , CM000665.1:g.119526121C>T GRCh37
NC_000003.10:g.121008811C>T NCBI36
NG_011856.1:g.31791C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393716.8:c.24C>T MANE Select ENSP00000377319.3:p.Ser8=
ENST00000466380.6:c.24C>T ENSP00000420297.2:p.Ser8=
ENST00000648112.1:c.*47C>T ENSP00000497876.1:n.*47C>T
ENST00000337940.4:c.141C>T ENSP00000336528.4:p.Ser47=
ENST00000393716.6:c.24C>T ENSP00000377319.2:p.Ser8=
ENST00000466380.5:c.24C>T ENSP00000420297.1:p.Ser8=
ENST00000474090.1:n.312C>T
NM_003889.3:c.24C>T NP_003880.3:p.Ser8=
NM_022002.2:c.141C>T NP_071285.1:p.Ser47=
NM_033013.2:c.24C>T NP_148934.1:p.Ser8=
NM_003889.4:c.24C>T MANE Select NP_003880.3:p.Ser8=
NM_022002.3:c.141C>T NP_071285.1:p.Ser47=
NM_033013.3:c.24C>T NP_148934.1:p.Ser8=