Canonical Allele Identifier: CA389281461
Gene: NRL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24082686C>A , CM000676.2:g.24082686C>A GRCh38
NC_000014.8:g.24551895C>A , CM000676.1:g.24551895C>A GRCh37
NC_000014.7:g.23621735C>A NCBI36
NG_011697.1:g.6938G>T
NG_011697.2:g.37329G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561028.6:c.163G>T MANE Select ENSP00000454062.2:p.Glu55Ter
ENST00000396997.1:c.163G>T ENSP00000380193.1:p.Glu55Ter
ENST00000397002.6:c.163G>T ENSP00000380197.2:p.Glu55Ter
ENST00000558280.1:c.163G>T ENSP00000454180.1:p.Glu55Ter
ENST00000561028.5:c.163G>T ENSP00000454062.1:p.Glu55Ter
NM_006177.3:c.163G>T NP_006168.1:p.Glu55Ter
XM_005267708.3:c.163G>T XP_005267765.1:p.Glu55Ter
XM_005267709.3:c.163G>T XP_005267766.1:p.Glu55Ter
XM_005267710.3:c.163G>T XP_005267767.1:p.Glu55Ter
XM_011536801.1:c.262G>T XP_011535103.1:p.Glu88Ter
XM_011536802.1:c.163G>T XP_011535104.1:p.Glu55Ter
XM_011536803.1:c.163G>T XP_011535105.1:p.Glu55Ter
XM_011536804.1:c.163G>T XP_011535106.1:p.Glu55Ter
XM_011536805.1:c.163G>T XP_011535107.1:p.Glu55Ter
XM_011536806.1:c.165+97G>T XP_011535108.1:n.165+97G>T
NM_001354768.1:c.163G>T NP_001341697.1:p.Glu55Ter
NM_001354769.1:c.163G>T NP_001341698.1:p.Glu55Ter
NM_001354770.1:c.66+97G>T NP_001341699.1:n.66+97G>T
NM_006177.4:c.163G>T NP_006168.1:p.Glu55Ter
XM_011536801.2:c.469G>T XP_011535103.2:p.Glu157Ter
XM_011536804.2:c.163G>T XP_011535106.1:p.Glu55Ter
XM_011536805.2:c.163G>T XP_011535107.1:p.Glu55Ter
XM_011536806.2:c.372+97G>T XP_011535108.2:n.372+97G>T
NM_001354768.3:c.163G>T MANE Select NP_001341697.1:p.Glu55Ter
NM_001354770.2:c.66+97G>T NP_001341699.1:n.66+97G>T
NM_006177.5:c.163G>T NP_006168.1:p.Glu55Ter