Canonical Allele Identifier: CA358427396
Community Standard Title: NM_000901.5(NR3C2):c.2755C>T (p.Gln919Ter)
Gene: NR3C2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148114148G>A , CM000666.2:g.148114148G>A GRCh38
NC_000004.11:g.149035299G>A , CM000666.1:g.149035299G>A GRCh37
NC_000004.10:g.149254749G>A NCBI36
NG_013350.1:g.333374C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000901.5:c.2755C>T MANE Select NP_000892.2:p.Gln919Ter
ENST00000358102.8:c.2755C>T MANE Select ENSP00000350815.3:p.Gln919Ter
NM_000901.4:c.2755C>T NP_000892.2:p.Gln919Ter
NM_001166104.1:c.2404C>T NP_001159576.1:p.Gln802Ter
NM_001166104.2:c.2404C>T NP_001159576.1:p.Gln802Ter
NM_001354819.1:c.2404C>T NP_001341748.1:p.Gln802Ter
NR_148974.1:n.2622C>T
NR_148974.2:n.2516C>T
ENST00000342437.8:c.*138C>T ENSP00000343907.4:n.*138C>T
ENST00000344721.8:c.2755C>T ENSP00000341390.4:p.Gln919Ter
ENST00000358102.7:c.2755C>T ENSP00000350815.3:p.Gln919Ter
ENST00000511528.1:c.2767C>T ENSP00000421481.1:p.Gln923Ter
ENST00000512865.5:c.2404C>T ENSP00000423510.1:p.Gln802Ter
ENST00000625323.2:c.2767C>T ENSP00000486719.1:p.Gln923Ter
XM_011531975.1:c.2767C>T XP_011530277.1:p.Gln923Ter
XM_011531976.1:c.2767C>T XP_011530278.1:p.Gln923Ter
XM_011531977.1:c.2767C>T XP_011530279.1:p.Gln923Ter