Canonical Allele Identifier: CA2123778046
Gene: NRL HGNC NCBI

Linked Data

dbSNP Id: rs1226575723

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24081582A>G , CM000676.2:g.24081582A>G GRCh38
NC_000014.8:g.24550791A>G , CM000676.1:g.24550791A>G GRCh37
NC_000014.7:g.23620631A>G NCBI36
NG_011697.1:g.8042T>C
NG_011697.2:g.38433T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000561028.6:c.382-14T>C MANE Select ENSP00000454062.2:n.382-14T>C
ENST00000396995.1:c.-36-14T>C ENSP00000380191.1:n.-36-14T>C
ENST00000396997.1:c.382-14T>C ENSP00000380193.1:n.382-14T>C
ENST00000397002.6:c.382-14T>C ENSP00000380197.2:n.382-14T>C
ENST00000560550.1:c.-36-14T>C ENSP00000452966.1:n.-36-14T>C
ENST00000561028.5:c.382-14T>C ENSP00000454062.1:n.382-14T>C
NM_006177.3:c.382-14T>C NP_006168.1:n.382-14T>C
XM_005267708.3:c.382-14T>C XP_005267765.1:n.382-14T>C
XM_005267709.3:c.382-14T>C XP_005267766.1:n.382-14T>C
XM_005267710.3:c.382-14T>C XP_005267767.1:n.382-14T>C
XM_011536801.1:c.481-14T>C XP_011535103.1:n.481-14T>C
XM_011536802.1:c.382-14T>C XP_011535104.1:n.382-14T>C
XM_011536803.1:c.382-14T>C XP_011535105.1:n.382-14T>C
XM_011536804.1:c.382-14T>C XP_011535106.1:n.382-14T>C
XM_011536805.1:c.382-14T>C XP_011535107.1:n.382-14T>C
XM_011536806.1:c.166-14T>C XP_011535108.1:n.166-14T>C
NM_001354768.1:c.382-14T>C NP_001341697.1:n.382-14T>C
NM_001354769.1:c.382-14T>C NP_001341698.1:n.382-14T>C
NM_001354770.1:c.67-14T>C NP_001341699.1:n.67-14T>C
NM_006177.4:c.382-14T>C NP_006168.1:n.382-14T>C
XM_011536801.2:c.688-14T>C XP_011535103.2:n.688-14T>C
XM_011536804.2:c.382-14T>C XP_011535106.1:n.382-14T>C
XM_011536805.2:c.382-14T>C XP_011535107.1:n.382-14T>C
XM_011536806.2:c.373-14T>C XP_011535108.2:n.373-14T>C
NM_001354768.3:c.382-14T>C MANE Select NP_001341697.1:n.382-14T>C
NM_001354770.2:c.67-14T>C NP_001341699.1:n.67-14T>C
NM_006177.5:c.382-14T>C NP_006168.1:n.382-14T>C