Canonical Allele Identifier: CA389276311

Gene: NRL

Linked Data

• gnomAD v4: 14-24081286-G-T
• MyVariant Identifiers: chr14:g.24550495G>T (hg19) ; chr14:g.24081286G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081286G>T , CM000676.2:g.24081286G>T	GRCh38
NC_000014.8:g.24550495G>T , CM000676.1:g.24550495G>T	GRCh37
NC_000014.7:g.23620335G>T	NCBI36
NG_011697.1:g.8338C>A
NG_011697.2:g.38729C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.664C>A MANE Select	ENSP00000454062.2:p.Leu222Ile
ENST00000396995.1:c.247C>A	ENSP00000380191.1:p.Leu83Ile
ENST00000396997.1:c.664C>A	ENSP00000380193.1:p.Leu222Ile
ENST00000397002.6:c.664C>A	ENSP00000380197.2:p.Leu222Ile
ENST00000560550.1:c.247C>A	ENSP00000452966.1:p.Leu83Ile
ENST00000561028.5:c.664C>A	ENSP00000454062.1:p.Leu222Ile
NM_006177.3:c.664C>A	NP_006168.1:p.Leu222Ile
XM_005267708.3:c.664C>A	XP_005267765.1:p.Leu222Ile
XM_005267709.3:c.664C>A	XP_005267766.1:p.Leu222Ile
XM_005267710.3:c.664C>A	XP_005267767.1:p.Leu222Ile
XM_011536801.1:c.763C>A	XP_011535103.1:p.Leu255Ile
XM_011536802.1:c.664C>A	XP_011535104.1:p.Leu222Ile
XM_011536803.1:c.664C>A	XP_011535105.1:p.Leu222Ile
XM_011536804.1:c.664C>A	XP_011535106.1:p.Leu222Ile
XM_011536805.1:c.664C>A	XP_011535107.1:p.Leu222Ile
XM_011536806.1:c.448C>A	XP_011535108.1:p.Leu150Ile
NM_001354768.1:c.664C>A	NP_001341697.1:p.Leu222Ile
NM_001354769.1:c.664C>A	NP_001341698.1:p.Leu222Ile
NM_001354770.1:c.349C>A	NP_001341699.1:p.Leu117Ile
NM_006177.4:c.664C>A	NP_006168.1:p.Leu222Ile
XM_011536801.2:c.970C>A	XP_011535103.2:p.Leu324Ile
XM_011536804.2:c.664C>A	XP_011535106.1:p.Leu222Ile
XM_011536805.2:c.664C>A	XP_011535107.1:p.Leu222Ile
XM_011536806.2:c.655C>A	XP_011535108.2:p.Leu219Ile
NM_001354768.3:c.664C>A MANE Select	NP_001341697.1:p.Leu222Ile
NM_001354770.2:c.349C>A	NP_001341699.1:p.Leu117Ile
NM_006177.5:c.664C>A	NP_006168.1:p.Leu222Ile