Canonical Allele Identifier: CA485657936
Gene: NRL HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.24551761C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24082552C>A , CM000676.2:g.24082552C>A GRCh38
NC_000014.8:g.24551761C>A , CM000676.1:g.24551761C>A GRCh37
NC_000014.7:g.23621601C>A NCBI36
NG_011697.1:g.7072G>T
NG_011697.2:g.37463G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561028.6:c.297G>T MANE Select ENSP00000454062.2:p.Leu99=
ENST00000396997.1:c.297G>T ENSP00000380193.1:p.Leu99=
ENST00000397002.6:c.297G>T ENSP00000380197.2:p.Leu99=
ENST00000561028.5:c.297G>T ENSP00000454062.1:p.Leu99=
NM_006177.3:c.297G>T NP_006168.1:p.Leu99=
XM_005267708.3:c.297G>T XP_005267765.1:p.Leu99=
XM_005267709.3:c.297G>T XP_005267766.1:p.Leu99=
XM_005267710.3:c.297G>T XP_005267767.1:p.Leu99=
XM_011536801.1:c.396G>T XP_011535103.1:p.Leu132=
XM_011536802.1:c.297G>T XP_011535104.1:p.Leu99=
XM_011536803.1:c.297G>T XP_011535105.1:p.Leu99=
XM_011536804.1:c.297G>T XP_011535106.1:p.Leu99=
XM_011536805.1:c.297G>T XP_011535107.1:p.Leu99=
XM_011536806.1:c.165+231G>T XP_011535108.1:n.165+231G>T
NM_001354768.1:c.297G>T NP_001341697.1:p.Leu99=
NM_001354769.1:c.297G>T NP_001341698.1:p.Leu99=
NM_001354770.1:c.66+231G>T NP_001341699.1:n.66+231G>T
NM_006177.4:c.297G>T NP_006168.1:p.Leu99=
XM_011536801.2:c.603G>T XP_011535103.2:p.Leu201=
XM_011536804.2:c.297G>T XP_011535106.1:p.Leu99=
XM_011536805.2:c.297G>T XP_011535107.1:p.Leu99=
XM_011536806.2:c.372+231G>T XP_011535108.2:n.372+231G>T
NM_001354768.3:c.297G>T MANE Select NP_001341697.1:p.Leu99=
NM_001354770.2:c.66+231G>T NP_001341699.1:n.66+231G>T
NM_006177.5:c.297G>T NP_006168.1:p.Leu99=