Canonical Allele Identifier: CA389277402

Gene: NRL

Linked Data

• gnomAD v4: 14-24081382-C-T
• MyVariant Identifiers: chr14:g.24550591C>T (hg19) ; chr14:g.24081382C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081382C>T , CM000676.2:g.24081382C>T	GRCh38
NC_000014.8:g.24550591C>T , CM000676.1:g.24550591C>T	GRCh37
NC_000014.7:g.23620431C>T	NCBI36
NG_011697.1:g.8242G>A
NG_011697.2:g.38633G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.568G>A MANE Select	ENSP00000454062.2:p.Glu190Lys
ENST00000396995.1:c.151G>A	ENSP00000380191.1:p.Glu51Lys
ENST00000396997.1:c.568G>A	ENSP00000380193.1:p.Glu190Lys
ENST00000397002.6:c.568G>A	ENSP00000380197.2:p.Glu190Lys
ENST00000560550.1:c.151G>A	ENSP00000452966.1:p.Glu51Lys
ENST00000561028.5:c.568G>A	ENSP00000454062.1:p.Glu190Lys
NM_006177.3:c.568G>A	NP_006168.1:p.Glu190Lys
XM_005267708.3:c.568G>A	XP_005267765.1:p.Glu190Lys
XM_005267709.3:c.568G>A	XP_005267766.1:p.Glu190Lys
XM_005267710.3:c.568G>A	XP_005267767.1:p.Glu190Lys
XM_011536801.1:c.667G>A	XP_011535103.1:p.Glu223Lys
XM_011536802.1:c.568G>A	XP_011535104.1:p.Glu190Lys
XM_011536803.1:c.568G>A	XP_011535105.1:p.Glu190Lys
XM_011536804.1:c.568G>A	XP_011535106.1:p.Glu190Lys
XM_011536805.1:c.568G>A	XP_011535107.1:p.Glu190Lys
XM_011536806.1:c.352G>A	XP_011535108.1:p.Glu118Lys
NM_001354768.1:c.568G>A	NP_001341697.1:p.Glu190Lys
NM_001354769.1:c.568G>A	NP_001341698.1:p.Glu190Lys
NM_001354770.1:c.253G>A	NP_001341699.1:p.Glu85Lys
NM_006177.4:c.568G>A	NP_006168.1:p.Glu190Lys
XM_011536801.2:c.874G>A	XP_011535103.2:p.Glu292Lys
XM_011536804.2:c.568G>A	XP_011535106.1:p.Glu190Lys
XM_011536805.2:c.568G>A	XP_011535107.1:p.Glu190Lys
XM_011536806.2:c.559G>A	XP_011535108.2:p.Glu187Lys
NM_001354768.3:c.568G>A MANE Select	NP_001341697.1:p.Glu190Lys
NM_001354770.2:c.253G>A	NP_001341699.1:p.Glu85Lys
NM_006177.5:c.568G>A	NP_006168.1:p.Glu190Lys