Canonical Allele Identifier: CA7122833

Gene: NRL

Linked Data

• ClinVar Variation Id: 312941
• ClinVar RCV Id: RCV000395648 ; RCV000954978 ; RCV001699305
• dbSNP Id: rs201197984
• ExAC: 14:24550718 C / T
• gnomAD v2: 14-24550718-C-T
• gnomAD v3: 14-24081509-C-T
• gnomAD v4: 14-24081509-C-T
• COSMIC: COSM3690039
• MyVariant Identifiers: chr14:g.24550718C>T (hg19) ; chr14:g.24081509C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081509C>T , CM000676.2:g.24081509C>T	GRCh38
NC_000014.8:g.24550718C>T , CM000676.1:g.24550718C>T	GRCh37
NC_000014.7:g.23620558C>T	NCBI36
NG_011697.1:g.8115G>A
NG_011697.2:g.38506G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.441G>A MANE Select	ENSP00000454062.2:p.Arg147=
ENST00000396995.1:c.24G>A	ENSP00000380191.1:p.Arg8=
ENST00000396997.1:c.441G>A	ENSP00000380193.1:p.Arg147=
ENST00000397002.6:c.441G>A	ENSP00000380197.2:p.Arg147=
ENST00000560550.1:c.24G>A	ENSP00000452966.1:p.Arg8=
ENST00000561028.5:c.441G>A	ENSP00000454062.1:p.Arg147=
NM_006177.3:c.441G>A	NP_006168.1:p.Arg147=
XM_005267708.3:c.441G>A	XP_005267765.1:p.Arg147=
XM_005267709.3:c.441G>A	XP_005267766.1:p.Arg147=
XM_005267710.3:c.441G>A	XP_005267767.1:p.Arg147=
XM_011536801.1:c.540G>A	XP_011535103.1:p.Arg180=
XM_011536802.1:c.441G>A	XP_011535104.1:p.Arg147=
XM_011536803.1:c.441G>A	XP_011535105.1:p.Arg147=
XM_011536804.1:c.441G>A	XP_011535106.1:p.Arg147=
XM_011536805.1:c.441G>A	XP_011535107.1:p.Arg147=
XM_011536806.1:c.225G>A	XP_011535108.1:p.Arg75=
NM_001354768.1:c.441G>A	NP_001341697.1:p.Arg147=
NM_001354769.1:c.441G>A	NP_001341698.1:p.Arg147=
NM_001354770.1:c.126G>A	NP_001341699.1:p.Arg42=
NM_006177.4:c.441G>A	NP_006168.1:p.Arg147=
XM_011536801.2:c.747G>A	XP_011535103.2:p.Arg249=
XM_011536804.2:c.441G>A	XP_011535106.1:p.Arg147=
XM_011536805.2:c.441G>A	XP_011535107.1:p.Arg147=
XM_011536806.2:c.432G>A	XP_011535108.2:p.Arg144=
NM_001354768.3:c.441G>A MANE Select	NP_001341697.1:p.Arg147=
NM_001354770.2:c.126G>A	NP_001341699.1:p.Arg42=
NM_006177.5:c.441G>A	NP_006168.1:p.Arg147=