Canonical Allele Identifier: CA1969283386
Gene: NR1H3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47253513G>C , CM000673.2:g.47253513G>C GRCh38
NC_000011.9:g.47275064G>C , CM000673.1:g.47275064G>C GRCh37
NC_000011.8:g.47231640G>C NCBI36
NG_023296.1:g.394C>G
NG_030392.1:g.10214G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395397.7:c.-93+4514G>C ENSP00000378793.3:n.-93+4514G>C
ENST00000405576.5:c.-93+4514G>C ENSP00000385073.1:n.-93+4514G>C
ENST00000407404.5:c.-38+4514G>C ENSP00000385801.1:n.-38+4514G>C
ENST00000436778.5:c.-38+2962G>C ENSP00000403798.1:n.-38+2962G>C
ENST00000481020.5:n.76+4514G>C
ENST00000481889.6:c.-93+4514G>C ENSP00000433271.1:n.-93+4514G>C
ENST00000487913.5:n.73+4514G>C
ENST00000495866.5:n.282+4649G>C
ENST00000527464.5:n.282+4649G>C
ENST00000529540.5:n.230+4649G>C
ENST00000531660.5:c.-93+4514G>C ENSP00000434650.1:n.-93+4514G>C
ENST00000532630.1:n.73+4514G>C
ENST00000616973.4:c.61+4649G>C ENSP00000477707.1:n.61+4649G>C
NM_001130102.2:c.-93+4514G>C NP_001123574.1:n.-93+4514G>C
NM_001251934.1:c.61+4649G>C NP_001238863.1:n.61+4649G>C
NM_001251935.1:c.61+4649G>C NP_001238864.1:n.61+4649G>C
XM_005252713.2:c.-38+4514G>C XP_005252770.1:n.-38+4514G>C
XM_005252716.2:c.-93+4514G>C XP_005252773.1:n.-93+4514G>C
XM_005252718.2:c.-93+4514G>C XP_005252775.1:n.-93+4514G>C
XM_011519805.1:c.-38+4514G>C XP_011518107.1:n.-38+4514G>C
XM_011519808.1:c.-138+4514G>C XP_011518110.1:n.-138+4514G>C
XM_005252713.3:c.-38+4514G>C XP_005252770.1:n.-38+4514G>C
XM_005252718.3:c.-93+4514G>C XP_005252775.1:n.-93+4514G>C
XM_011519805.2:c.-38+4514G>C XP_011518107.1:n.-38+4514G>C
XM_011519808.2:c.-138+4514G>C XP_011518110.1:n.-138+4514G>C
XM_024448288.1:c.-38+4514G>C XP_024304056.1:n.-38+4514G>C
XM_024448292.1:c.-93+4514G>C XP_024304060.1:n.-93+4514G>C
XM_024448294.1:c.-98+4514G>C XP_024304062.1:n.-98+4514G>C
XM_024448298.1:c.-93+4413G>C XP_024304066.1:n.-93+4413G>C
XM_024448299.1:c.-93+4514G>C XP_024304067.1:n.-93+4514G>C
XM_024448302.1:c.-138+4514G>C XP_024304070.1:n.-138+4514G>C
NM_001130102.3:c.-93+4514G>C NP_001123574.1:n.-93+4514G>C
NM_001251934.2:c.61+4649G>C NP_001238863.1:n.61+4649G>C
NM_001251935.2:c.61+4649G>C NP_001238864.1:n.61+4649G>C