Canonical Allele Identifier: CA7122824

Gene: NRL

Linked Data

• ClinVar Variation Id: 2968435
• ClinVar RCV Id: RCV003821561
• dbSNP Id: rs761074130
• ExAC: 14:24550671 C / T
• gnomAD v2: 14-24550671-C-T
• gnomAD v3: 14-24081462-C-T
• gnomAD v4: 14-24081462-C-T
• MyVariant Identifiers: chr14:g.24550671C>T (hg19) ; chr14:g.24081462C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081462C>T , CM000676.2:g.24081462C>T	GRCh38
NC_000014.8:g.24550671C>T , CM000676.1:g.24550671C>T	GRCh37
NC_000014.7:g.23620511C>T	NCBI36
NG_011697.1:g.8162G>A
NG_011697.2:g.38553G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.488G>A MANE Select	ENSP00000454062.2:p.Arg163Lys
ENST00000396995.1:c.71G>A	ENSP00000380191.1:p.Arg24Lys
ENST00000396997.1:c.488G>A	ENSP00000380193.1:p.Arg163Lys
ENST00000397002.6:c.488G>A	ENSP00000380197.2:p.Arg163Lys
ENST00000560550.1:c.71G>A	ENSP00000452966.1:p.Arg24Lys
ENST00000561028.5:c.488G>A	ENSP00000454062.1:p.Arg163Lys
NM_006177.3:c.488G>A	NP_006168.1:p.Arg163Lys
XM_005267708.3:c.488G>A	XP_005267765.1:p.Arg163Lys
XM_005267709.3:c.488G>A	XP_005267766.1:p.Arg163Lys
XM_005267710.3:c.488G>A	XP_005267767.1:p.Arg163Lys
XM_011536801.1:c.587G>A	XP_011535103.1:p.Arg196Lys
XM_011536802.1:c.488G>A	XP_011535104.1:p.Arg163Lys
XM_011536803.1:c.488G>A	XP_011535105.1:p.Arg163Lys
XM_011536804.1:c.488G>A	XP_011535106.1:p.Arg163Lys
XM_011536805.1:c.488G>A	XP_011535107.1:p.Arg163Lys
XM_011536806.1:c.272G>A	XP_011535108.1:p.Arg91Lys
NM_001354768.1:c.488G>A	NP_001341697.1:p.Arg163Lys
NM_001354769.1:c.488G>A	NP_001341698.1:p.Arg163Lys
NM_001354770.1:c.173G>A	NP_001341699.1:p.Arg58Lys
NM_006177.4:c.488G>A	NP_006168.1:p.Arg163Lys
XM_011536801.2:c.794G>A	XP_011535103.2:p.Arg265Lys
XM_011536804.2:c.488G>A	XP_011535106.1:p.Arg163Lys
XM_011536805.2:c.488G>A	XP_011535107.1:p.Arg163Lys
XM_011536806.2:c.479G>A	XP_011535108.2:p.Arg160Lys
NM_001354768.3:c.488G>A MANE Select	NP_001341697.1:p.Arg163Lys
NM_001354770.2:c.173G>A	NP_001341699.1:p.Arg58Lys
NM_006177.5:c.488G>A	NP_006168.1:p.Arg163Lys