Canonical Allele Identifier: CA389279131

Gene: NRL

Linked Data

• gnomAD v4: 14-24081562-C-T
• MyVariant Identifiers: chr14:g.24550771C>T (hg19) ; chr14:g.24081562C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081562C>T , CM000676.2:g.24081562C>T	GRCh38
NC_000014.8:g.24550771C>T , CM000676.1:g.24550771C>T	GRCh37
NC_000014.7:g.23620611C>T	NCBI36
NG_011697.1:g.8062G>A
NG_011697.2:g.38453G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.388G>A MANE Select	ENSP00000454062.2:p.Glu130Lys
ENST00000396995.1:c.-30G>A	ENSP00000380191.1:n.-30G>A
ENST00000396997.1:c.388G>A	ENSP00000380193.1:p.Glu130Lys
ENST00000397002.6:c.388G>A	ENSP00000380197.2:p.Glu130Lys
ENST00000560550.1:c.-30G>A	ENSP00000452966.1:n.-30G>A
ENST00000561028.5:c.388G>A	ENSP00000454062.1:p.Glu130Lys
NM_006177.3:c.388G>A	NP_006168.1:p.Glu130Lys
XM_005267708.3:c.388G>A	XP_005267765.1:p.Glu130Lys
XM_005267709.3:c.388G>A	XP_005267766.1:p.Glu130Lys
XM_005267710.3:c.388G>A	XP_005267767.1:p.Glu130Lys
XM_011536801.1:c.487G>A	XP_011535103.1:p.Glu163Lys
XM_011536802.1:c.388G>A	XP_011535104.1:p.Glu130Lys
XM_011536803.1:c.388G>A	XP_011535105.1:p.Glu130Lys
XM_011536804.1:c.388G>A	XP_011535106.1:p.Glu130Lys
XM_011536805.1:c.388G>A	XP_011535107.1:p.Glu130Lys
XM_011536806.1:c.172G>A	XP_011535108.1:p.Glu58Lys
NM_001354768.1:c.388G>A	NP_001341697.1:p.Glu130Lys
NM_001354769.1:c.388G>A	NP_001341698.1:p.Glu130Lys
NM_001354770.1:c.73G>A	NP_001341699.1:p.Glu25Lys
NM_006177.4:c.388G>A	NP_006168.1:p.Glu130Lys
XM_011536801.2:c.694G>A	XP_011535103.2:p.Glu232Lys
XM_011536804.2:c.388G>A	XP_011535106.1:p.Glu130Lys
XM_011536805.2:c.388G>A	XP_011535107.1:p.Glu130Lys
XM_011536806.2:c.379G>A	XP_011535108.2:p.Glu127Lys
NM_001354768.3:c.388G>A MANE Select	NP_001341697.1:p.Glu130Lys
NM_001354770.2:c.73G>A	NP_001341699.1:p.Glu25Lys
NM_006177.5:c.388G>A	NP_006168.1:p.Glu130Lys