Canonical Allele Identifier: CA2523128156
Gene: NR1H3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47268506C>T , CM000673.2:g.47268506C>T GRCh38
NC_000011.9:g.47290057C>T , CM000673.1:g.47290057C>T GRCh37
NC_000011.8:g.47246633C>T NCBI36
NG_029462.1:g.4131C>T
NG_030392.1:g.25207C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000441012.7:c.1198-44C>T MANE Select ENSP00000387946.2:n.1198-44C>T
ENST00000395397.7:c.1063-44C>T ENSP00000378793.3:n.1063-44C>T
ENST00000405576.5:c.883-44C>T ENSP00000385073.1:n.883-44C>T
ENST00000405853.7:c.1018-44C>T ENSP00000384745.3:n.1018-44C>T
ENST00000407404.5:c.1018-44C>T ENSP00000385801.1:n.1018-44C>T
ENST00000441012.6:c.1198-44C>T ENSP00000387946.2:n.1198-44C>T
ENST00000462051.5:n.412-44C>T
ENST00000467728.5:c.1198-44C>T ENSP00000420656.1:n.1198-44C>T
ENST00000481020.5:n.1423-44C>T
ENST00000481889.6:c.1255-44C>T ENSP00000433271.1:n.1255-44C>T
ENST00000494018.1:n.216-44C>T
ENST00000527949.1:c.745-44C>T ENSP00000432073.1:n.745-44C>T
ENST00000529540.5:n.1385-44C>T
ENST00000532630.1:n.283-44C>T
ENST00000616973.4:c.1216-44C>T ENSP00000477707.1:n.1216-44C>T
NM_001130101.2:c.1018-44C>T NP_001123573.1:n.1018-44C>T
NM_001130102.2:c.1063-44C>T NP_001123574.1:n.1063-44C>T
NM_001251934.1:c.1216-44C>T NP_001238863.1:n.1216-44C>T
NM_001251935.1:c.1216-44C>T NP_001238864.1:n.1216-44C>T
NM_005693.3:c.1198-44C>T NP_005684.2:n.1198-44C>T
XM_005252705.1:c.1198-44C>T XP_005252762.1:n.1198-44C>T
XM_005252706.1:c.1198-44C>T XP_005252763.1:n.1198-44C>T
XM_005252707.3:c.1198-44C>T XP_005252764.1:n.1198-44C>T
XM_005252709.1:c.1063-44C>T XP_005252766.1:n.1063-44C>T
XM_005252710.1:c.1063-44C>T XP_005252767.1:n.1063-44C>T
XM_005252713.2:c.1018-44C>T XP_005252770.1:n.1018-44C>T
XM_005252715.2:c.931-44C>T XP_005252772.1:n.931-44C>T
XM_005252716.2:c.796-44C>T XP_005252773.1:n.796-44C>T
XM_005252718.2:c.616-44C>T XP_005252775.1:n.616-44C>T
XM_006718112.1:c.1198-44C>T XP_006718175.1:n.1198-44C>T
XM_006718113.1:c.1198-44C>T XP_006718176.1:n.1198-44C>T
XM_006718114.2:c.1198-44C>T XP_006718177.1:n.1198-44C>T
XM_006718115.1:c.1063-44C>T XP_006718178.1:n.1063-44C>T
XM_006718116.1:c.1063-44C>T XP_006718179.1:n.1063-44C>T
XM_011519805.1:c.1198-44C>T XP_011518107.1:n.1198-44C>T
XM_011519806.1:c.883-44C>T XP_011518108.1:n.883-44C>T
XM_011519807.1:c.796-44C>T XP_011518109.1:n.796-44C>T
XM_011519808.1:c.562-44C>T XP_011518110.1:n.562-44C>T
NM_001363595.1:c.883-44C>T NP_001350524.1:n.883-44C>T
XM_005252713.3:c.1018-44C>T XP_005252770.1:n.1018-44C>T
XM_005252718.3:c.616-44C>T XP_005252775.1:n.616-44C>T
XM_011519805.2:c.1198-44C>T XP_011518107.1:n.1198-44C>T
XM_011519808.2:c.562-44C>T XP_011518110.1:n.562-44C>T
XM_024448284.1:c.1390-44C>T XP_024304052.1:n.1390-44C>T
XM_024448285.1:c.1390-44C>T XP_024304053.1:n.1390-44C>T
XM_024448286.1:c.1390-44C>T XP_024304054.1:n.1390-44C>T
XM_024448287.1:c.1390-44C>T XP_024304055.1:n.1390-44C>T
XM_024448288.1:c.1390-44C>T XP_024304056.1:n.1390-44C>T
XM_024448289.1:c.1063-44C>T XP_024304057.1:n.1063-44C>T
XM_024448290.1:c.1255-44C>T XP_024304058.1:n.1255-44C>T
XM_024448291.1:c.1255-44C>T XP_024304059.1:n.1255-44C>T
XM_024448292.1:c.1255-44C>T XP_024304060.1:n.1255-44C>T
XM_024448293.1:c.1255-44C>T XP_024304061.1:n.1255-44C>T
XM_024448294.1:c.1255-44C>T XP_024304062.1:n.1255-44C>T
XM_024448295.1:c.1255-44C>T XP_024304063.1:n.1255-44C>T
XM_024448296.1:c.988-44C>T XP_024304064.1:n.988-44C>T
XM_024448297.1:c.1123-44C>T XP_024304065.1:n.1123-44C>T
XM_024448298.1:c.1063-44C>T XP_024304066.1:n.1063-44C>T
XM_024448299.1:c.988-44C>T XP_024304067.1:n.988-44C>T
XM_024448300.1:c.1255-44C>T XP_024304068.1:n.1255-44C>T
XM_024448302.1:c.754-44C>T XP_024304070.1:n.754-44C>T
NM_005693.4:c.1198-44C>T MANE Select NP_005684.2:n.1198-44C>T
NM_001130101.3:c.1018-44C>T NP_001123573.1:n.1018-44C>T
NM_001130102.3:c.1063-44C>T NP_001123574.1:n.1063-44C>T
NM_001363595.2:c.883-44C>T NP_001350524.1:n.883-44C>T
NM_001251934.2:c.1216-44C>T NP_001238863.1:n.1216-44C>T
NM_001251935.2:c.1216-44C>T NP_001238864.1:n.1216-44C>T