Canonical Allele Identifier: CA257868076
Gene: NRL HGNC NCBI

Linked Data

ClinVar Variation Id: 1297094
dbSNP Id: rs35984106

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24081391G>T , CM000676.2:g.24081391G>T GRCh38
NC_000014.8:g.24550600G>T , CM000676.1:g.24550600G>T GRCh37
NC_000014.7:g.23620440G>T NCBI36
NG_011697.1:g.8233C>A
NG_011697.2:g.38624C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000561028.6:c.559C>A MANE Select ENSP00000454062.2:p.Leu187Met
ENST00000396995.1:c.142C>A ENSP00000380191.1:p.Leu48Met
ENST00000396997.1:c.559C>A ENSP00000380193.1:p.Leu187Met
ENST00000397002.6:c.559C>A ENSP00000380197.2:p.Leu187Met
ENST00000560550.1:c.142C>A ENSP00000452966.1:p.Leu48Met
ENST00000561028.5:c.559C>A ENSP00000454062.1:p.Leu187Met
NM_006177.3:c.559C>A NP_006168.1:p.Leu187Met
XM_005267708.3:c.559C>A XP_005267765.1:p.Leu187Met
XM_005267709.3:c.559C>A XP_005267766.1:p.Leu187Met
XM_005267710.3:c.559C>A XP_005267767.1:p.Leu187Met
XM_011536801.1:c.658C>A XP_011535103.1:p.Leu220Met
XM_011536802.1:c.559C>A XP_011535104.1:p.Leu187Met
XM_011536803.1:c.559C>A XP_011535105.1:p.Leu187Met
XM_011536804.1:c.559C>A XP_011535106.1:p.Leu187Met
XM_011536805.1:c.559C>A XP_011535107.1:p.Leu187Met
XM_011536806.1:c.343C>A XP_011535108.1:p.Leu115Met
NM_001354768.1:c.559C>A NP_001341697.1:p.Leu187Met
NM_001354769.1:c.559C>A NP_001341698.1:p.Leu187Met
NM_001354770.1:c.244C>A NP_001341699.1:p.Leu82Met
NM_006177.4:c.559C>A NP_006168.1:p.Leu187Met
XM_011536801.2:c.865C>A XP_011535103.2:p.Leu289Met
XM_011536804.2:c.559C>A XP_011535106.1:p.Leu187Met
XM_011536805.2:c.559C>A XP_011535107.1:p.Leu187Met
XM_011536806.2:c.550C>A XP_011535108.2:p.Leu184Met
NM_001354768.3:c.559C>A MANE Select NP_001341697.1:p.Leu187Met
NM_001354770.2:c.244C>A NP_001341699.1:p.Leu82Met
NM_006177.5:c.559C>A NP_006168.1:p.Leu187Met