Canonical Allele Identifier: CA261137

Gene: NRL

Linked Data

• ClinVar Variation Id: 39510
• ClinVar RCV Id: RCV000032706 ; RCV001074266
• dbSNP Id: rs397514516
• ExAC: 14:24551771 A / G
• gnomAD v2: 14-24551771-A-G
• gnomAD v4: 14-24082562-A-G
• MyVariant Identifiers: chr14:g.24551771A>G (hg19) ; chr14:g.24082562A>G (hg38)
• PubMed: PMID:11385710 ; PMID:21981118

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24082562A>G , CM000676.2:g.24082562A>G	GRCh38
NC_000014.8:g.24551771A>G , CM000676.1:g.24551771A>G	GRCh37
NC_000014.7:g.23621611A>G	NCBI36
NG_011697.1:g.7062T>C
NG_011697.2:g.37453T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.287T>C MANE Select	ENSP00000454062.2:p.Met96Thr
ENST00000396997.1:c.287T>C	ENSP00000380193.1:p.Met96Thr
ENST00000397002.6:c.287T>C	ENSP00000380197.2:p.Met96Thr
ENST00000561028.5:c.287T>C	ENSP00000454062.1:p.Met96Thr
NM_006177.3:c.287T>C	NP_006168.1:p.Met96Thr
XM_005267708.3:c.287T>C	XP_005267765.1:p.Met96Thr
XM_005267709.3:c.287T>C	XP_005267766.1:p.Met96Thr
XM_005267710.3:c.287T>C	XP_005267767.1:p.Met96Thr
XM_011536801.1:c.386T>C	XP_011535103.1:p.Met129Thr
XM_011536802.1:c.287T>C	XP_011535104.1:p.Met96Thr
XM_011536803.1:c.287T>C	XP_011535105.1:p.Met96Thr
XM_011536804.1:c.287T>C	XP_011535106.1:p.Met96Thr
XM_011536805.1:c.287T>C	XP_011535107.1:p.Met96Thr
XM_011536806.1:c.165+221T>C	XP_011535108.1:n.165+221T>C
NM_001354768.1:c.287T>C	NP_001341697.1:p.Met96Thr
NM_001354769.1:c.287T>C	NP_001341698.1:p.Met96Thr
NM_001354770.1:c.66+221T>C	NP_001341699.1:n.66+221T>C
NM_006177.4:c.287T>C	NP_006168.1:p.Met96Thr
XM_011536801.2:c.593T>C	XP_011535103.2:p.Met198Thr
XM_011536804.2:c.287T>C	XP_011535106.1:p.Met96Thr
XM_011536805.2:c.287T>C	XP_011535107.1:p.Met96Thr
XM_011536806.2:c.372+221T>C	XP_011535108.2:n.372+221T>C
NM_001354768.3:c.287T>C MANE Select	NP_001341697.1:p.Met96Thr
NM_001354770.2:c.66+221T>C	NP_001341699.1:n.66+221T>C
NM_006177.5:c.287T>C	NP_006168.1:p.Met96Thr