Canonical Allele Identifier: CA389278409

Gene: NRL

Linked Data

• dbSNP Id: rs1005365568
• gnomAD v2: 14-24550689-G-A
• gnomAD v4: 14-24081480-G-A
• MyVariant Identifiers: chr14:g.24550689G>A (hg19) ; chr14:g.24081480G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081480G>A , CM000676.2:g.24081480G>A	GRCh38
NC_000014.8:g.24550689G>A , CM000676.1:g.24550689G>A	GRCh37
NC_000014.7:g.23620529G>A	NCBI36
NG_011697.1:g.8144C>T
NG_011697.2:g.38535C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.470C>T MANE Select	ENSP00000454062.2:p.Ala157Val
ENST00000396995.1:c.53C>T	ENSP00000380191.1:p.Ala18Val
ENST00000396997.1:c.470C>T	ENSP00000380193.1:p.Ala157Val
ENST00000397002.6:c.470C>T	ENSP00000380197.2:p.Ala157Val
ENST00000560550.1:c.53C>T	ENSP00000452966.1:p.Ala18Val
ENST00000561028.5:c.470C>T	ENSP00000454062.1:p.Ala157Val
NM_006177.3:c.470C>T	NP_006168.1:p.Ala157Val
XM_005267708.3:c.470C>T	XP_005267765.1:p.Ala157Val
XM_005267709.3:c.470C>T	XP_005267766.1:p.Ala157Val
XM_005267710.3:c.470C>T	XP_005267767.1:p.Ala157Val
XM_011536801.1:c.569C>T	XP_011535103.1:p.Ala190Val
XM_011536802.1:c.470C>T	XP_011535104.1:p.Ala157Val
XM_011536803.1:c.470C>T	XP_011535105.1:p.Ala157Val
XM_011536804.1:c.470C>T	XP_011535106.1:p.Ala157Val
XM_011536805.1:c.470C>T	XP_011535107.1:p.Ala157Val
XM_011536806.1:c.254C>T	XP_011535108.1:p.Ala85Val
NM_001354768.1:c.470C>T	NP_001341697.1:p.Ala157Val
NM_001354769.1:c.470C>T	NP_001341698.1:p.Ala157Val
NM_001354770.1:c.155C>T	NP_001341699.1:p.Ala52Val
NM_006177.4:c.470C>T	NP_006168.1:p.Ala157Val
XM_011536801.2:c.776C>T	XP_011535103.2:p.Ala259Val
XM_011536804.2:c.470C>T	XP_011535106.1:p.Ala157Val
XM_011536805.2:c.470C>T	XP_011535107.1:p.Ala157Val
XM_011536806.2:c.461C>T	XP_011535108.2:p.Ala154Val
NM_001354768.3:c.470C>T MANE Select	NP_001341697.1:p.Ala157Val
NM_001354770.2:c.155C>T	NP_001341699.1:p.Ala52Val
NM_006177.5:c.470C>T	NP_006168.1:p.Ala157Val