Canonical Allele Identifier: CA485776069
Gene: NRL HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.24550745G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24081536G>A , CM000676.2:g.24081536G>A GRCh38
NC_000014.8:g.24550745G>A , CM000676.1:g.24550745G>A GRCh37
NC_000014.7:g.23620585G>A NCBI36
NG_011697.1:g.8088C>T
NG_011697.2:g.38479C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561028.6:c.414C>T MANE Select ENSP00000454062.2:p.Val138=
ENST00000396995.1:c.-4C>T ENSP00000380191.1:n.-4C>T
ENST00000396997.1:c.414C>T ENSP00000380193.1:p.Val138=
ENST00000397002.6:c.414C>T ENSP00000380197.2:p.Val138=
ENST00000560550.1:c.-4C>T ENSP00000452966.1:n.-4C>T
ENST00000561028.5:c.414C>T ENSP00000454062.1:p.Val138=
NM_006177.3:c.414C>T NP_006168.1:p.Val138=
XM_005267708.3:c.414C>T XP_005267765.1:p.Val138=
XM_005267709.3:c.414C>T XP_005267766.1:p.Val138=
XM_005267710.3:c.414C>T XP_005267767.1:p.Val138=
XM_011536801.1:c.513C>T XP_011535103.1:p.Val171=
XM_011536802.1:c.414C>T XP_011535104.1:p.Val138=
XM_011536803.1:c.414C>T XP_011535105.1:p.Val138=
XM_011536804.1:c.414C>T XP_011535106.1:p.Val138=
XM_011536805.1:c.414C>T XP_011535107.1:p.Val138=
XM_011536806.1:c.198C>T XP_011535108.1:p.Val66=
NM_001354768.1:c.414C>T NP_001341697.1:p.Val138=
NM_001354769.1:c.414C>T NP_001341698.1:p.Val138=
NM_001354770.1:c.99C>T NP_001341699.1:p.Val33=
NM_006177.4:c.414C>T NP_006168.1:p.Val138=
XM_011536801.2:c.720C>T XP_011535103.2:p.Val240=
XM_011536804.2:c.414C>T XP_011535106.1:p.Val138=
XM_011536805.2:c.414C>T XP_011535107.1:p.Val138=
XM_011536806.2:c.405C>T XP_011535108.2:p.Val135=
NM_001354768.3:c.414C>T MANE Select NP_001341697.1:p.Val138=
NM_001354770.2:c.99C>T NP_001341699.1:p.Val33=
NM_006177.5:c.414C>T NP_006168.1:p.Val138=