Canonical Allele Identifier: CA389279558

Gene: NRL

Linked Data

• ClinVar Variation Id: 1055578
• ClinVar RCV Id: RCV001364273
• dbSNP Id: rs972469809
• gnomAD v2: 14-24551720-T-C
• gnomAD v4: 14-24082511-T-C
• MyVariant Identifiers: chr14:g.24551720T>C (hg19) ; chr14:g.24082511T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24082511T>C , CM000676.2:g.24082511T>C	GRCh38
NC_000014.8:g.24551720T>C , CM000676.1:g.24551720T>C	GRCh37
NC_000014.7:g.23621560T>C	NCBI36
NG_011697.1:g.7113A>G
NG_011697.2:g.37504A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.338A>G MANE Select	ENSP00000454062.2:p.Tyr113Cys
ENST00000396997.1:c.338A>G	ENSP00000380193.1:p.Tyr113Cys
ENST00000397002.6:c.338A>G	ENSP00000380197.2:p.Tyr113Cys
ENST00000561028.5:c.338A>G	ENSP00000454062.1:p.Tyr113Cys
NM_006177.3:c.338A>G	NP_006168.1:p.Tyr113Cys
XM_005267708.3:c.338A>G	XP_005267765.1:p.Tyr113Cys
XM_005267709.3:c.338A>G	XP_005267766.1:p.Tyr113Cys
XM_005267710.3:c.338A>G	XP_005267767.1:p.Tyr113Cys
XM_011536801.1:c.437A>G	XP_011535103.1:p.Tyr146Cys
XM_011536802.1:c.338A>G	XP_011535104.1:p.Tyr113Cys
XM_011536803.1:c.338A>G	XP_011535105.1:p.Tyr113Cys
XM_011536804.1:c.338A>G	XP_011535106.1:p.Tyr113Cys
XM_011536805.1:c.338A>G	XP_011535107.1:p.Tyr113Cys
XM_011536806.1:c.165+272A>G	XP_011535108.1:n.165+272A>G
NM_001354768.1:c.338A>G	NP_001341697.1:p.Tyr113Cys
NM_001354769.1:c.338A>G	NP_001341698.1:p.Tyr113Cys
NM_001354770.1:c.66+272A>G	NP_001341699.1:n.66+272A>G
NM_006177.4:c.338A>G	NP_006168.1:p.Tyr113Cys
XM_011536801.2:c.644A>G	XP_011535103.2:p.Tyr215Cys
XM_011536804.2:c.338A>G	XP_011535106.1:p.Tyr113Cys
XM_011536805.2:c.338A>G	XP_011535107.1:p.Tyr113Cys
XM_011536806.2:c.372+272A>G	XP_011535108.2:n.372+272A>G
NM_001354768.3:c.338A>G MANE Select	NP_001341697.1:p.Tyr113Cys
NM_001354770.2:c.66+272A>G	NP_001341699.1:n.66+272A>G
NM_006177.5:c.338A>G	NP_006168.1:p.Tyr113Cys