Canonical Allele Identifier: CA257070

Gene: NRL

Linked Data

• ClinVar Variation Id: 14042
• ClinVar RCV Id: RCV000015086
• dbSNP Id: rs104894459
• MyVariant Identifiers: chr14:g.24551910A>T (hg19) ; chr14:g.24082701A>T (hg38)
• PubMed: PMID:10192380 ; PMID:11039579 ; PMID:12796249 ; PMID:17335001 ; PMID:17374726

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24082701A>T , CM000676.2:g.24082701A>T	GRCh38
NC_000014.8:g.24551910A>T , CM000676.1:g.24551910A>T	GRCh37
NC_000014.7:g.23621750A>T	NCBI36
NG_011697.1:g.6923T>A
NG_011697.2:g.37314T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.148T>A MANE Select	ENSP00000454062.2:p.Ser50Thr
ENST00000396997.1:c.148T>A	ENSP00000380193.1:p.Ser50Thr
ENST00000397002.6:c.148T>A	ENSP00000380197.2:p.Ser50Thr
ENST00000558280.1:c.148T>A	ENSP00000454180.1:p.Ser50Thr
ENST00000561028.5:c.148T>A	ENSP00000454062.1:p.Ser50Thr
NM_006177.3:c.148T>A	NP_006168.1:p.Ser50Thr
XM_005267708.3:c.148T>A	XP_005267765.1:p.Ser50Thr
XM_005267709.3:c.148T>A	XP_005267766.1:p.Ser50Thr
XM_005267710.3:c.148T>A	XP_005267767.1:p.Ser50Thr
XM_011536801.1:c.247T>A	XP_011535103.1:p.Ser83Thr
XM_011536802.1:c.148T>A	XP_011535104.1:p.Ser50Thr
XM_011536803.1:c.148T>A	XP_011535105.1:p.Ser50Thr
XM_011536804.1:c.148T>A	XP_011535106.1:p.Ser50Thr
XM_011536805.1:c.148T>A	XP_011535107.1:p.Ser50Thr
XM_011536806.1:c.165+82T>A	XP_011535108.1:n.165+82T>A
NM_001354768.1:c.148T>A	NP_001341697.1:p.Ser50Thr
NM_001354769.1:c.148T>A	NP_001341698.1:p.Ser50Thr
NM_001354770.1:c.66+82T>A	NP_001341699.1:n.66+82T>A
NM_006177.4:c.148T>A	NP_006168.1:p.Ser50Thr
XM_011536801.2:c.454T>A	XP_011535103.2:p.Ser152Thr
XM_011536804.2:c.148T>A	XP_011535106.1:p.Ser50Thr
XM_011536805.2:c.148T>A	XP_011535107.1:p.Ser50Thr
XM_011536806.2:c.372+82T>A	XP_011535108.2:n.372+82T>A
NM_001354768.3:c.148T>A MANE Select	NP_001341697.1:p.Ser50Thr
NM_001354770.2:c.66+82T>A	NP_001341699.1:n.66+82T>A
NM_006177.5:c.148T>A	NP_006168.1:p.Ser50Thr