Canonical Allele Identifier: CA7122903
Gene: NRL HGNC NCBI

Linked Data

ClinVar Variation Id: 882489
dbSNP Id: rs149921817

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24082622G>A , CM000676.2:g.24082622G>A GRCh38
NC_000014.8:g.24551831G>A , CM000676.1:g.24551831G>A GRCh37
NC_000014.7:g.23621671G>A NCBI36
NG_011697.1:g.7002C>T
NG_011697.2:g.37393C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561028.6:c.227C>T MANE Select ENSP00000454062.2:p.Ala76Val
ENST00000396997.1:c.227C>T ENSP00000380193.1:p.Ala76Val
ENST00000397002.6:c.227C>T ENSP00000380197.2:p.Ala76Val
ENST00000561028.5:c.227C>T ENSP00000454062.1:p.Ala76Val
NM_006177.3:c.227C>T NP_006168.1:p.Ala76Val
XM_005267708.3:c.227C>T XP_005267765.1:p.Ala76Val
XM_005267709.3:c.227C>T XP_005267766.1:p.Ala76Val
XM_005267710.3:c.227C>T XP_005267767.1:p.Ala76Val
XM_011536801.1:c.326C>T XP_011535103.1:p.Ala109Val
XM_011536802.1:c.227C>T XP_011535104.1:p.Ala76Val
XM_011536803.1:c.227C>T XP_011535105.1:p.Ala76Val
XM_011536804.1:c.227C>T XP_011535106.1:p.Ala76Val
XM_011536805.1:c.227C>T XP_011535107.1:p.Ala76Val
XM_011536806.1:c.165+161C>T XP_011535108.1:n.165+161C>T
NM_001354768.1:c.227C>T NP_001341697.1:p.Ala76Val
NM_001354769.1:c.227C>T NP_001341698.1:p.Ala76Val
NM_001354770.1:c.66+161C>T NP_001341699.1:n.66+161C>T
NM_006177.4:c.227C>T NP_006168.1:p.Ala76Val
XM_011536801.2:c.533C>T XP_011535103.2:p.Ala178Val
XM_011536804.2:c.227C>T XP_011535106.1:p.Ala76Val
XM_011536805.2:c.227C>T XP_011535107.1:p.Ala76Val
XM_011536806.2:c.372+161C>T XP_011535108.2:n.372+161C>T
NM_001354768.3:c.227C>T MANE Select NP_001341697.1:p.Ala76Val
NM_001354770.2:c.66+161C>T NP_001341699.1:n.66+161C>T
NM_006177.5:c.227C>T NP_006168.1:p.Ala76Val