Canonical Allele Identifier: CA257867866

Gene: NRL

Linked Data

• dbSNP Id: rs906581448
• gnomAD v4: 14-24080990-C-A
• MyVariant Identifiers: chr14:g.24550199C>A (hg19) ; chr14:g.24080990C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24080990C>A , CM000676.2:g.24080990C>A	GRCh38
NC_000014.8:g.24550199C>A , CM000676.1:g.24550199C>A	GRCh37
NC_000014.7:g.23620039C>A	NCBI36
NG_011697.1:g.8634G>T
NG_011697.2:g.39025G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.*246G>T MANE Select	ENSP00000454062.2:n.*246G>T
ENST00000396997.1:c.*246G>T	ENSP00000380193.1:n.*246G>T
ENST00000397002.6:c.*246G>T	ENSP00000380197.2:n.*246G>T
ENST00000561028.5:c.*246G>T	ENSP00000454062.1:n.*246G>T
NM_006177.3:c.*246G>T	NP_006168.1:n.*246G>T
XM_005267708.3:c.*246G>T	XP_005267765.1:n.*246G>T
XM_005267709.3:c.*246G>T	XP_005267766.1:n.*246G>T
XM_005267710.3:c.*246G>T	XP_005267767.1:n.*246G>T
XM_011536801.1:c.*246G>T	XP_011535103.1:n.*246G>T
XM_011536802.1:c.*246G>T	XP_011535104.1:n.*246G>T
XM_011536803.1:c.*246G>T	XP_011535105.1:n.*246G>T
XM_011536804.1:c.*246G>T	XP_011535106.1:n.*246G>T
XM_011536805.1:c.*246G>T	XP_011535107.1:n.*246G>T
XM_011536806.1:c.*246G>T	XP_011535108.1:n.*246G>T
NM_001354768.1:c.*246G>T	NP_001341697.1:n.*246G>T
NM_001354769.1:c.*246G>T	NP_001341698.1:n.*246G>T
NM_001354770.1:c.*246G>T	NP_001341699.1:n.*246G>T
NM_006177.4:c.*246G>T	NP_006168.1:n.*246G>T
XM_011536801.2:c.*246G>T	XP_011535103.2:n.*246G>T
XM_011536804.2:c.*246G>T	XP_011535106.1:n.*246G>T
XM_011536805.2:c.*246G>T	XP_011535107.1:n.*246G>T
XM_011536806.2:c.*246G>T	XP_011535108.2:n.*246G>T
NM_001354768.3:c.*246G>T MANE Select	NP_001341697.1:n.*246G>T
NM_001354770.2:c.*246G>T	NP_001341699.1:n.*246G>T
NM_006177.5:c.*246G>T	NP_006168.1:n.*246G>T