Canonical Allele Identifier: CA389281383

Gene: NRL

Linked Data

• ClinVar Variation Id: 2794346
• ClinVar RCV Id: RCV003672785
• dbSNP Id: rs1259678334
• gnomAD v2: 14-24551888-C-T
• gnomAD v4: 14-24082679-C-T
• COSMIC: COSM2032432
• MyVariant Identifiers: chr14:g.24551888C>T (hg19) ; chr14:g.24082679C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24082679C>T , CM000676.2:g.24082679C>T	GRCh38
NC_000014.8:g.24551888C>T , CM000676.1:g.24551888C>T	GRCh37
NC_000014.7:g.23621728C>T	NCBI36
NG_011697.1:g.6945G>A
NG_011697.2:g.37336G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.170G>A MANE Select	ENSP00000454062.2:p.Gly57Asp
ENST00000396997.1:c.170G>A	ENSP00000380193.1:p.Gly57Asp
ENST00000397002.6:c.170G>A	ENSP00000380197.2:p.Gly57Asp
ENST00000558280.1:c.170G>A	ENSP00000454180.1:p.Gly57Asp
ENST00000561028.5:c.170G>A	ENSP00000454062.1:p.Gly57Asp
NM_006177.3:c.170G>A	NP_006168.1:p.Gly57Asp
XM_005267708.3:c.170G>A	XP_005267765.1:p.Gly57Asp
XM_005267709.3:c.170G>A	XP_005267766.1:p.Gly57Asp
XM_005267710.3:c.170G>A	XP_005267767.1:p.Gly57Asp
XM_011536801.1:c.269G>A	XP_011535103.1:p.Gly90Asp
XM_011536802.1:c.170G>A	XP_011535104.1:p.Gly57Asp
XM_011536803.1:c.170G>A	XP_011535105.1:p.Gly57Asp
XM_011536804.1:c.170G>A	XP_011535106.1:p.Gly57Asp
XM_011536805.1:c.170G>A	XP_011535107.1:p.Gly57Asp
XM_011536806.1:c.165+104G>A	XP_011535108.1:n.165+104G>A
NM_001354768.1:c.170G>A	NP_001341697.1:p.Gly57Asp
NM_001354769.1:c.170G>A	NP_001341698.1:p.Gly57Asp
NM_001354770.1:c.66+104G>A	NP_001341699.1:n.66+104G>A
NM_006177.4:c.170G>A	NP_006168.1:p.Gly57Asp
XM_011536801.2:c.476G>A	XP_011535103.2:p.Gly159Asp
XM_011536804.2:c.170G>A	XP_011535106.1:p.Gly57Asp
XM_011536805.2:c.170G>A	XP_011535107.1:p.Gly57Asp
XM_011536806.2:c.372+104G>A	XP_011535108.2:n.372+104G>A
NM_001354768.3:c.170G>A MANE Select	NP_001341697.1:p.Gly57Asp
NM_001354770.2:c.66+104G>A	NP_001341699.1:n.66+104G>A
NM_006177.5:c.170G>A	NP_006168.1:p.Gly57Asp