Canonical Allele Identifier: CA389278128

Gene: NRL

Linked Data

• ClinVar Variation Id: 1513892
• ClinVar RCV Id: RCV002026403
• dbSNP Id: rs2138869912
• MyVariant Identifiers: chr14:g.24550665C>G (hg19) ; chr14:g.24081456C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081456C>G , CM000676.2:g.24081456C>G	GRCh38
NC_000014.8:g.24550665C>G , CM000676.1:g.24550665C>G	GRCh37
NC_000014.7:g.23620505C>G	NCBI36
NG_011697.1:g.8168G>C
NG_011697.2:g.38559G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.494G>C MANE Select	ENSP00000454062.2:p.Arg165Pro
ENST00000396995.1:c.77G>C	ENSP00000380191.1:p.Arg26Pro
ENST00000396997.1:c.494G>C	ENSP00000380193.1:p.Arg165Pro
ENST00000397002.6:c.494G>C	ENSP00000380197.2:p.Arg165Pro
ENST00000560550.1:c.77G>C	ENSP00000452966.1:p.Arg26Pro
ENST00000561028.5:c.494G>C	ENSP00000454062.1:p.Arg165Pro
NM_006177.3:c.494G>C	NP_006168.1:p.Arg165Pro
XM_005267708.3:c.494G>C	XP_005267765.1:p.Arg165Pro
XM_005267709.3:c.494G>C	XP_005267766.1:p.Arg165Pro
XM_005267710.3:c.494G>C	XP_005267767.1:p.Arg165Pro
XM_011536801.1:c.593G>C	XP_011535103.1:p.Arg198Pro
XM_011536802.1:c.494G>C	XP_011535104.1:p.Arg165Pro
XM_011536803.1:c.494G>C	XP_011535105.1:p.Arg165Pro
XM_011536804.1:c.494G>C	XP_011535106.1:p.Arg165Pro
XM_011536805.1:c.494G>C	XP_011535107.1:p.Arg165Pro
XM_011536806.1:c.278G>C	XP_011535108.1:p.Arg93Pro
NM_001354768.1:c.494G>C	NP_001341697.1:p.Arg165Pro
NM_001354769.1:c.494G>C	NP_001341698.1:p.Arg165Pro
NM_001354770.1:c.179G>C	NP_001341699.1:p.Arg60Pro
NM_006177.4:c.494G>C	NP_006168.1:p.Arg165Pro
XM_011536801.2:c.800G>C	XP_011535103.2:p.Arg267Pro
XM_011536804.2:c.494G>C	XP_011535106.1:p.Arg165Pro
XM_011536805.2:c.494G>C	XP_011535107.1:p.Arg165Pro
XM_011536806.2:c.485G>C	XP_011535108.2:p.Arg162Pro
NM_001354768.3:c.494G>C MANE Select	NP_001341697.1:p.Arg165Pro
NM_001354770.2:c.179G>C	NP_001341699.1:p.Arg60Pro
NM_006177.5:c.494G>C	NP_006168.1:p.Arg165Pro