Canonical Allele Identifier: CA7122812

Gene: NRL

Linked Data

• ClinVar Variation Id: 1488193
• ClinVar RCV Id: RCV001988452
• dbSNP Id: rs754996626
• ExAC: 14:24550468 C / T
• gnomAD v2: 14-24550468-C-T
• gnomAD v3: 14-24081259-C-T
• gnomAD v4: 14-24081259-C-T
• MyVariant Identifiers: chr14:g.24550468C>T (hg19) ; chr14:g.24081259C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081259C>T , CM000676.2:g.24081259C>T	GRCh38
NC_000014.8:g.24550468C>T , CM000676.1:g.24550468C>T	GRCh37
NC_000014.7:g.23620308C>T	NCBI36
NG_011697.1:g.8365G>A
NG_011697.2:g.38756G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.691G>A MANE Select	ENSP00000454062.2:p.Asp231Asn
ENST00000396995.1:c.274G>A	ENSP00000380191.1:p.Asp92Asn
ENST00000396997.1:c.691G>A	ENSP00000380193.1:p.Asp231Asn
ENST00000397002.6:c.691G>A	ENSP00000380197.2:p.Asp231Asn
ENST00000560550.1:c.274G>A	ENSP00000452966.1:p.Asp92Asn
ENST00000561028.5:c.691G>A	ENSP00000454062.1:p.Asp231Asn
NM_006177.3:c.691G>A	NP_006168.1:p.Asp231Asn
XM_005267708.3:c.691G>A	XP_005267765.1:p.Asp231Asn
XM_005267709.3:c.691G>A	XP_005267766.1:p.Asp231Asn
XM_005267710.3:c.691G>A	XP_005267767.1:p.Asp231Asn
XM_011536801.1:c.790G>A	XP_011535103.1:p.Asp264Asn
XM_011536802.1:c.691G>A	XP_011535104.1:p.Asp231Asn
XM_011536803.1:c.691G>A	XP_011535105.1:p.Asp231Asn
XM_011536804.1:c.691G>A	XP_011535106.1:p.Asp231Asn
XM_011536805.1:c.691G>A	XP_011535107.1:p.Asp231Asn
XM_011536806.1:c.475G>A	XP_011535108.1:p.Asp159Asn
NM_001354768.1:c.691G>A	NP_001341697.1:p.Asp231Asn
NM_001354769.1:c.691G>A	NP_001341698.1:p.Asp231Asn
NM_001354770.1:c.376G>A	NP_001341699.1:p.Asp126Asn
NM_006177.4:c.691G>A	NP_006168.1:p.Asp231Asn
XM_011536801.2:c.997G>A	XP_011535103.2:p.Asp333Asn
XM_011536804.2:c.691G>A	XP_011535106.1:p.Asp231Asn
XM_011536805.2:c.691G>A	XP_011535107.1:p.Asp231Asn
XM_011536806.2:c.682G>A	XP_011535108.2:p.Asp228Asn
NM_001354768.3:c.691G>A MANE Select	NP_001341697.1:p.Asp231Asn
NM_001354770.2:c.376G>A	NP_001341699.1:p.Asp126Asn
NM_006177.5:c.691G>A	NP_006168.1:p.Asp231Asn