Canonical Allele Identifier: CA380306538

Gene: NR1H3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47260473C>A , CM000673.2:g.47260473C>A	GRCh38
NC_000011.9:g.47282024C>A , CM000673.1:g.47282024C>A	GRCh37
NC_000011.8:g.47238600C>A	NCBI36
NG_030392.1:g.17174C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441012.7:c.297C>A MANE Select	ENSP00000387946.2:p.Ser99Arg
ENST00000395397.7:c.162C>A	ENSP00000378793.3:p.Ser54Arg
ENST00000405576.5:c.162C>A	ENSP00000385073.1:p.Ser54Arg
ENST00000405853.7:c.297C>A	ENSP00000384745.3:p.Ser99Arg
ENST00000407404.5:c.297C>A	ENSP00000385801.1:p.Ser99Arg
ENST00000412937.5:c.162C>A	ENSP00000412636.1:p.Ser54Arg
ENST00000420369.5:c.302C>A	ENSP00000406692.1:p.Ala101Glu
ENST00000436029.5:c.297C>A	ENSP00000403696.1:p.Ser99Arg
ENST00000436778.5:c.297C>A	ENSP00000403798.1:p.Ser99Arg
ENST00000441012.6:c.297C>A	ENSP00000387946.2:p.Ser99Arg
ENST00000444396.5:c.297C>A	ENSP00000391005.1:p.Ser99Arg
ENST00000449369.5:c.297C>A	ENSP00000415591.1:p.Ser99Arg
ENST00000461778.5:n.562-78C>A
ENST00000467728.5:c.297C>A	ENSP00000420656.1:p.Ser99Arg
ENST00000473222.1:n.397C>A
ENST00000476086.6:n.383C>A
ENST00000481020.5:n.330C>A
ENST00000481889.6:c.162C>A	ENSP00000433271.1:p.Ser54Arg
ENST00000483882.1:n.458C>A
ENST00000487913.5:n.74-768C>A
ENST00000495866.5:n.536C>A
ENST00000525441.5:n.429+494C>A
ENST00000527464.5:n.536C>A
ENST00000527949.1:c.24C>A	ENSP00000432073.1:p.Ser8Arg
ENST00000529540.5:n.484C>A
ENST00000530310.1:n.399C>A
ENST00000531660.5:c.97+494C>A	ENSP00000434650.1:n.97+494C>A
ENST00000532630.1:n.74-7440C>A
ENST00000616973.4:c.315C>A	ENSP00000477707.1:p.Ser105Arg
NM_001130101.2:c.297C>A	NP_001123573.1:p.Ser99Arg
NM_001130102.2:c.162C>A	NP_001123574.1:p.Ser54Arg
NM_001251934.1:c.315C>A	NP_001238863.1:p.Ser105Arg
NM_001251935.1:c.315C>A	NP_001238864.1:p.Ser105Arg
NM_005693.3:c.297C>A	NP_005684.2:p.Ser99Arg
XM_005252705.1:c.297C>A	XP_005252762.1:p.Ser99Arg
XM_005252706.1:c.297C>A	XP_005252763.1:p.Ser99Arg
XM_005252707.3:c.297C>A	XP_005252764.1:p.Ser99Arg
XM_005252709.1:c.162C>A	XP_005252766.1:p.Ser54Arg
XM_005252710.1:c.162C>A	XP_005252767.1:p.Ser54Arg
XM_005252713.2:c.297C>A	XP_005252770.1:p.Ser99Arg
XM_005252715.2:c.232+494C>A	XP_005252772.1:n.232+494C>A
XM_005252716.2:c.97+494C>A	XP_005252773.1:n.97+494C>A
XM_005252718.2:c.97+494C>A	XP_005252775.1:n.97+494C>A
XM_006718112.1:c.297C>A	XP_006718175.1:p.Ser99Arg
XM_006718113.1:c.297C>A	XP_006718176.1:p.Ser99Arg
XM_006718114.2:c.297C>A	XP_006718177.1:p.Ser99Arg
XM_006718115.1:c.162C>A	XP_006718178.1:p.Ser54Arg
XM_006718116.1:c.162C>A	XP_006718179.1:p.Ser54Arg
XM_011519805.1:c.297C>A	XP_011518107.1:p.Ser99Arg
XM_011519806.1:c.162C>A	XP_011518108.1:p.Ser54Arg
XM_011519807.1:c.97+494C>A	XP_011518109.1:n.97+494C>A
XM_011519808.1:c.-137-768C>A	XP_011518110.1:n.-137-768C>A
NM_001363595.1:c.162C>A	NP_001350524.1:p.Ser54Arg
XM_005252713.3:c.297C>A	XP_005252770.1:p.Ser99Arg
XM_005252718.3:c.97+494C>A	XP_005252775.1:n.97+494C>A
XM_011519805.2:c.297C>A	XP_011518107.1:p.Ser99Arg
XM_011519808.2:c.-137-768C>A	XP_011518110.1:n.-137-768C>A
XM_017017056.1:c.162C>A	XP_016872545.1:p.Ser54Arg
XM_017017057.1:c.162C>A	XP_016872546.1:p.Ser54Arg
XM_024448284.1:c.297C>A	XP_024304052.1:p.Ser99Arg
XM_024448285.1:c.297C>A	XP_024304053.1:p.Ser99Arg
XM_024448286.1:c.297C>A	XP_024304054.1:p.Ser99Arg
XM_024448287.1:c.297C>A	XP_024304055.1:p.Ser99Arg
XM_024448288.1:c.297C>A	XP_024304056.1:p.Ser99Arg
XM_024448289.1:c.162C>A	XP_024304057.1:p.Ser54Arg
XM_024448290.1:c.162C>A	XP_024304058.1:p.Ser54Arg
XM_024448291.1:c.162C>A	XP_024304059.1:p.Ser54Arg
XM_024448292.1:c.162C>A	XP_024304060.1:p.Ser54Arg
XM_024448293.1:c.162C>A	XP_024304061.1:p.Ser54Arg
XM_024448294.1:c.162C>A	XP_024304062.1:p.Ser54Arg
XM_024448295.1:c.162C>A	XP_024304063.1:p.Ser54Arg
XM_024448296.1:c.97+494C>A	XP_024304064.1:n.97+494C>A
XM_024448297.1:c.232+494C>A	XP_024304065.1:n.232+494C>A
XM_024448298.1:c.162C>A	XP_024304066.1:p.Ser54Arg
XM_024448299.1:c.97+494C>A	XP_024304067.1:n.97+494C>A
XM_024448300.1:c.162C>A	XP_024304068.1:p.Ser54Arg
XM_024448302.1:c.-137-768C>A	XP_024304070.1:n.-137-768C>A
NM_005693.4:c.297C>A MANE Select	NP_005684.2:p.Ser99Arg
NM_001130101.3:c.297C>A	NP_001123573.1:p.Ser99Arg
NM_001130102.3:c.162C>A	NP_001123574.1:p.Ser54Arg
NM_001363595.2:c.162C>A	NP_001350524.1:p.Ser54Arg
NM_001251934.2:c.315C>A	NP_001238863.1:p.Ser105Arg
NM_001251935.2:c.315C>A	NP_001238864.1:p.Ser105Arg