Canonical Allele Identifier: CA275077

Gene: NRL

Linked Data

• ClinVar Variation Id: 195258
• ClinVar RCV Id: RCV000175819 ; RCV001376429
• dbSNP Id: rs794727281
• MyVariant Identifiers: chr14:g.24551907G>A (hg19) ; chr14:g.24082698G>A (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24082698G>A , CM000676.2:g.24082698G>A	GRCh38
NC_000014.8:g.24551907G>A , CM000676.1:g.24551907G>A	GRCh37
NC_000014.7:g.23621747G>A	NCBI36
NG_011697.1:g.6926C>T
NG_011697.2:g.37317C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.151C>T MANE Select	ENSP00000454062.2:p.Pro51Ser
ENST00000396997.1:c.151C>T	ENSP00000380193.1:p.Pro51Ser
ENST00000397002.6:c.151C>T	ENSP00000380197.2:p.Pro51Ser
ENST00000558280.1:c.151C>T	ENSP00000454180.1:p.Pro51Ser
ENST00000561028.5:c.151C>T	ENSP00000454062.1:p.Pro51Ser
NM_006177.3:c.151C>T	NP_006168.1:p.Pro51Ser
XM_005267708.3:c.151C>T	XP_005267765.1:p.Pro51Ser
XM_005267709.3:c.151C>T	XP_005267766.1:p.Pro51Ser
XM_005267710.3:c.151C>T	XP_005267767.1:p.Pro51Ser
XM_011536801.1:c.250C>T	XP_011535103.1:p.Pro84Ser
XM_011536802.1:c.151C>T	XP_011535104.1:p.Pro51Ser
XM_011536803.1:c.151C>T	XP_011535105.1:p.Pro51Ser
XM_011536804.1:c.151C>T	XP_011535106.1:p.Pro51Ser
XM_011536805.1:c.151C>T	XP_011535107.1:p.Pro51Ser
XM_011536806.1:c.165+85C>T	XP_011535108.1:n.165+85C>T
NM_001354768.1:c.151C>T	NP_001341697.1:p.Pro51Ser
NM_001354769.1:c.151C>T	NP_001341698.1:p.Pro51Ser
NM_001354770.1:c.66+85C>T	NP_001341699.1:n.66+85C>T
NM_006177.4:c.151C>T	NP_006168.1:p.Pro51Ser
XM_011536801.2:c.457C>T	XP_011535103.2:p.Pro153Ser
XM_011536804.2:c.151C>T	XP_011535106.1:p.Pro51Ser
XM_011536805.2:c.151C>T	XP_011535107.1:p.Pro51Ser
XM_011536806.2:c.372+85C>T	XP_011535108.2:n.372+85C>T
NM_001354768.3:c.151C>T MANE Select	NP_001341697.1:p.Pro51Ser
NM_001354770.2:c.66+85C>T	NP_001341699.1:n.66+85C>T
NM_006177.5:c.151C>T	NP_006168.1:p.Pro51Ser