Canonical Allele Identifier: CA389278722
Gene: NRL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24081519T>C , CM000676.2:g.24081519T>C GRCh38
NC_000014.8:g.24550728T>C , CM000676.1:g.24550728T>C GRCh37
NC_000014.7:g.23620568T>C NCBI36
NG_011697.1:g.8105A>G
NG_011697.2:g.38496A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000561028.6:c.431A>G MANE Select ENSP00000454062.2:p.Glu144Gly
ENST00000396995.1:c.14A>G ENSP00000380191.1:p.Glu5Gly
ENST00000396997.1:c.431A>G ENSP00000380193.1:p.Glu144Gly
ENST00000397002.6:c.431A>G ENSP00000380197.2:p.Glu144Gly
ENST00000560550.1:c.14A>G ENSP00000452966.1:p.Glu5Gly
ENST00000561028.5:c.431A>G ENSP00000454062.1:p.Glu144Gly
NM_006177.3:c.431A>G NP_006168.1:p.Glu144Gly
XM_005267708.3:c.431A>G XP_005267765.1:p.Glu144Gly
XM_005267709.3:c.431A>G XP_005267766.1:p.Glu144Gly
XM_005267710.3:c.431A>G XP_005267767.1:p.Glu144Gly
XM_011536801.1:c.530A>G XP_011535103.1:p.Glu177Gly
XM_011536802.1:c.431A>G XP_011535104.1:p.Glu144Gly
XM_011536803.1:c.431A>G XP_011535105.1:p.Glu144Gly
XM_011536804.1:c.431A>G XP_011535106.1:p.Glu144Gly
XM_011536805.1:c.431A>G XP_011535107.1:p.Glu144Gly
XM_011536806.1:c.215A>G XP_011535108.1:p.Glu72Gly
NM_001354768.1:c.431A>G NP_001341697.1:p.Glu144Gly
NM_001354769.1:c.431A>G NP_001341698.1:p.Glu144Gly
NM_001354770.1:c.116A>G NP_001341699.1:p.Glu39Gly
NM_006177.4:c.431A>G NP_006168.1:p.Glu144Gly
XM_011536801.2:c.737A>G XP_011535103.2:p.Glu246Gly
XM_011536804.2:c.431A>G XP_011535106.1:p.Glu144Gly
XM_011536805.2:c.431A>G XP_011535107.1:p.Glu144Gly
XM_011536806.2:c.422A>G XP_011535108.2:p.Glu141Gly
NM_001354768.3:c.431A>G MANE Select NP_001341697.1:p.Glu144Gly
NM_001354770.2:c.116A>G NP_001341699.1:p.Glu39Gly
NM_006177.5:c.431A>G NP_006168.1:p.Glu144Gly