Canonical Allele Identifier: CA435219416
Gene: NR1I2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.119526178C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119807331C>T , CM000665.2:g.119807331C>T GRCh38
NC_000003.11:g.119526178C>T , CM000665.1:g.119526178C>T GRCh37
NC_000003.10:g.121008868C>T NCBI36
NG_011856.1:g.31848C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393716.8:c.81C>T MANE Select ENSP00000377319.3:p.Pro27=
ENST00000466380.6:c.81C>T ENSP00000420297.2:p.Pro27=
ENST00000648112.1:c.*104C>T ENSP00000497876.1:n.*104C>T
ENST00000337940.4:c.198C>T ENSP00000336528.4:p.Pro66=
ENST00000393716.6:c.81C>T ENSP00000377319.2:p.Pro27=
ENST00000466380.5:c.81C>T ENSP00000420297.1:p.Pro27=
ENST00000474090.1:n.369C>T
NM_003889.3:c.81C>T NP_003880.3:p.Pro27=
NM_022002.2:c.198C>T NP_071285.1:p.Pro66=
NM_033013.2:c.81C>T NP_148934.1:p.Pro27=
NM_003889.4:c.81C>T MANE Select NP_003880.3:p.Pro27=
NM_022002.3:c.198C>T NP_071285.1:p.Pro66=
NM_033013.3:c.81C>T NP_148934.1:p.Pro27=