Canonical Allele Identifier: CA384901144

Gene: NR4A1

Linked Data

• gnomAD v4: 12-52054390-T-G
• MyVariant Identifiers: chr12:g.52448174T>G (hg19) ; chr12:g.52054390T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52054390T>G , CM000674.2:g.52054390T>G	GRCh38
NC_000012.11:g.52448174T>G , CM000674.1:g.52448174T>G	GRCh37
NC_000012.10:g.50734441T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000394825.6:c.62T>G MANE Select	ENSP00000378302.1:p.Leu21Arg
ENST00000243050.5:c.62T>G	ENSP00000243050.1:p.Leu21Arg
ENST00000360284.7:c.101T>G	ENSP00000353427.3:p.Leu34Arg
ENST00000394824.2:c.62T>G	ENSP00000378301.2:p.Leu21Arg
ENST00000394825.5:c.62T>G	ENSP00000378302.1:p.Leu21Arg
ENST00000478250.1:n.249T>G
ENST00000545748.5:c.224T>G	ENSP00000440864.1:p.Leu75Arg
ENST00000546842.5:c.101T>G	ENSP00000457070.1:p.Leu34Arg
ENST00000547206.5:n.287T>G
ENST00000548232.1:c.62T>G	ENSP00000449587.1:p.Leu21Arg
ENST00000548733.1:n.107-2104T>G
ENST00000548977.5:c.101T>G	ENSP00000456633.1:p.Leu34Arg
ENST00000549102.1:n.551T>G
ENST00000550082.5:c.101T>G	ENSP00000449539.1:p.Leu34Arg
ENST00000550557.1:n.973T>G
ENST00000550763.1:c.62T>G	ENSP00000449858.1:p.Leu21Arg
ENST00000562373.1:c.-41T>G	ENSP00000455399.1:n.-41T>G
NM_001202233.1:c.101T>G	NP_001189162.1:p.Leu34Arg
NM_001202234.1:c.224T>G	NP_001189163.1:p.Leu75Arg
NM_002135.4:c.62T>G	NP_002126.2:p.Leu21Arg
NM_173157.2:c.62T>G	NP_775180.1:p.Leu21Arg
XM_005268822.3:c.278T>G	XP_005268879.1:p.Leu93Arg
XM_005268824.2:c.62T>G	XP_005268881.1:p.Leu21Arg
XM_006719363.1:c.62T>G	XP_006719426.1:p.Leu21Arg
XM_006719364.2:c.62T>G	XP_006719427.1:p.Leu21Arg
XM_011538250.1:c.62T>G	XP_011536552.1:p.Leu21Arg
XM_011538251.1:c.278T>G	XP_011536553.1:p.Leu93Arg
XM_005268824.3:c.62T>G	XP_005268881.1:p.Leu21Arg
XM_006719364.4:c.62T>G	XP_006719427.1:p.Leu21Arg
XM_017019247.1:c.74T>G	XP_016874736.1:p.Leu25Arg
NM_173157.3:c.62T>G MANE Select	NP_775180.1:p.Leu21Arg
NM_001202233.2:c.101T>G	NP_001189162.1:p.Leu34Arg
NM_001202234.2:c.224T>G	NP_001189163.1:p.Leu75Arg
NM_002135.5:c.62T>G	NP_002126.2:p.Leu21Arg