Canonical Allele Identifier: CA129252313
Gene: NR3C1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.143282715G>T , CM000667.2:g.143282715G>T GRCh38
NC_000005.9:g.142662280G>T , CM000667.1:g.142662280G>T GRCh37
NC_000005.8:g.142642473G>T NCBI36
NG_009062.1:g.157798C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394464.7:c.2034C>A MANE Select ENSP00000377977.2:p.Asp678Glu
ENST00000652686.1:c.1941C>A ENSP00000498663.1:p.Asp647Glu
ENST00000231509.7:c.2037C>A ENSP00000231509.3:p.Asp679Glu
ENST00000343796.6:c.2034C>A ENSP00000343205.2:p.Asp678Glu
ENST00000394464.6:c.2034C>A ENSP00000377977.2:p.Asp678Glu
ENST00000394466.6:c.2037C>A ENSP00000377979.2:p.Asp679Glu
ENST00000415690.6:c.2034C>A ENSP00000387672.2:p.Asp678Glu
ENST00000424646.6:c.1956C>A ENSP00000405282.2:p.Asp652Glu
ENST00000503201.1:c.2034C>A ENSP00000427672.1:p.Asp678Glu
ENST00000504572.5:c.2037C>A ENSP00000422518.1:p.Asp679Glu
NM_000176.2:c.2034C>A NP_000167.1:p.Asp678Glu
NM_001018074.1:c.2034C>A NP_001018084.1:p.Asp678Glu
NM_001018075.1:c.2034C>A NP_001018085.1:p.Asp678Glu
NM_001018076.1:c.2034C>A NP_001018086.1:p.Asp678Glu
NM_001018077.1:c.2034C>A NP_001018087.1:p.Asp678Glu
NM_001020825.1:c.2034C>A NP_001018661.1:p.Asp678Glu
NM_001024094.1:c.2037C>A NP_001019265.1:p.Asp679Glu
NM_001204258.1:c.1956C>A NP_001191187.1:p.Asp652Glu
NM_001204259.1:c.1779C>A NP_001191188.1:p.Asp593Glu
NM_001204260.1:c.1767C>A NP_001191189.1:p.Asp589Glu
NM_001204261.1:c.1743C>A NP_001191190.1:p.Asp581Glu
NM_001204262.1:c.1089C>A NP_001191191.1:p.Asp363Glu
NM_001204263.1:c.1044C>A NP_001191192.1:p.Asp348Glu
NM_001204264.1:c.1029C>A NP_001191193.1:p.Asp343Glu
XM_005268419.2:c.2037C>A XP_005268476.1:p.Asp679Glu
XM_005268420.3:c.2037C>A XP_005268477.1:p.Asp679Glu
XM_005268422.2:c.2037C>A XP_005268479.1:p.Asp679Glu
XM_005268423.2:c.2037C>A XP_005268480.1:p.Asp679Glu
XM_011537637.1:c.843C>A XP_011535939.1:p.Asp281Glu
XR_944371.1:n.656-1984G>T
NR_157096.1:n.957C>A
XM_005268419.4:c.2037C>A XP_005268476.1:p.Asp679Glu
XM_005268420.4:c.2037C>A XP_005268477.1:p.Asp679Glu
XM_005268422.3:c.2037C>A XP_005268479.1:p.Asp679Glu
XM_005268423.3:c.2037C>A XP_005268480.1:p.Asp679Glu
XM_011537637.3:c.843C>A XP_011535939.1:p.Asp281Glu
XM_017009397.1:c.2034C>A XP_016864886.1:p.Asp678Glu
XM_017009398.1:c.2034C>A XP_016864887.1:p.Asp678Glu
NM_000176.3:c.2034C>A MANE Select NP_000167.1:p.Asp678Glu
NM_001364180.1:c.2034C>A NP_001351109.1:p.Asp678Glu
NM_001364181.1:c.2034C>A NP_001351110.1:p.Asp678Glu
NM_001364182.1:c.2034C>A NP_001351111.1:p.Asp678Glu
NM_001364183.1:c.2037C>A NP_001351112.1:p.Asp679Glu
NM_001364184.1:c.2037C>A NP_001351113.1:p.Asp679Glu
NM_001364185.1:c.2037C>A NP_001351114.1:p.Asp679Glu
NM_001018076.2:c.2034C>A NP_001018086.1:p.Asp678Glu
NM_001020825.2:c.2034C>A NP_001018661.1:p.Asp678Glu
NM_001024094.2:c.2037C>A NP_001019265.1:p.Asp679Glu
NM_001204258.2:c.1956C>A NP_001191187.1:p.Asp652Glu
NM_001204259.2:c.1779C>A NP_001191188.1:p.Asp593Glu
NM_001204260.2:c.1767C>A NP_001191189.1:p.Asp589Glu
NM_001204261.2:c.1743C>A NP_001191190.1:p.Asp581Glu
NM_001204262.2:c.1089C>A NP_001191191.1:p.Asp363Glu
NM_001204263.2:c.1044C>A NP_001191192.1:p.Asp348Glu
NM_001204264.2:c.1029C>A NP_001191193.1:p.Asp343Glu
NM_001364180.2:c.2034C>A NP_001351109.1:p.Asp678Glu
NM_001364181.2:c.2034C>A NP_001351110.1:p.Asp678Glu
NM_001364183.2:c.2037C>A NP_001351112.1:p.Asp679Glu
NM_001364184.2:c.2037C>A NP_001351113.1:p.Asp679Glu
NR_157096.2:n.957C>A