Canonical Allele Identifier: CA389281215

Gene: NRL

Linked Data

• dbSNP Id: rs1328326393
• gnomAD v3: 14-24082664-G-A
• gnomAD v4: 14-24082664-G-A
• MyVariant Identifiers: chr14:g.24551873G>A (hg19) ; chr14:g.24082664G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24082664G>A , CM000676.2:g.24082664G>A	GRCh38
NC_000014.8:g.24551873G>A , CM000676.1:g.24551873G>A	GRCh37
NC_000014.7:g.23621713G>A	NCBI36
NG_011697.1:g.6960C>T
NG_011697.2:g.37351C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.185C>T MANE Select	ENSP00000454062.2:p.Thr62Ile
ENST00000396997.1:c.185C>T	ENSP00000380193.1:p.Thr62Ile
ENST00000397002.6:c.185C>T	ENSP00000380197.2:p.Thr62Ile
ENST00000558280.1:c.185C>T	ENSP00000454180.1:p.Thr62Ile
ENST00000561028.5:c.185C>T	ENSP00000454062.1:p.Thr62Ile
NM_006177.3:c.185C>T	NP_006168.1:p.Thr62Ile
XM_005267708.3:c.185C>T	XP_005267765.1:p.Thr62Ile
XM_005267709.3:c.185C>T	XP_005267766.1:p.Thr62Ile
XM_005267710.3:c.185C>T	XP_005267767.1:p.Thr62Ile
XM_011536801.1:c.284C>T	XP_011535103.1:p.Thr95Ile
XM_011536802.1:c.185C>T	XP_011535104.1:p.Thr62Ile
XM_011536803.1:c.185C>T	XP_011535105.1:p.Thr62Ile
XM_011536804.1:c.185C>T	XP_011535106.1:p.Thr62Ile
XM_011536805.1:c.185C>T	XP_011535107.1:p.Thr62Ile
XM_011536806.1:c.165+119C>T	XP_011535108.1:n.165+119C>T
NM_001354768.1:c.185C>T	NP_001341697.1:p.Thr62Ile
NM_001354769.1:c.185C>T	NP_001341698.1:p.Thr62Ile
NM_001354770.1:c.66+119C>T	NP_001341699.1:n.66+119C>T
NM_006177.4:c.185C>T	NP_006168.1:p.Thr62Ile
XM_011536801.2:c.491C>T	XP_011535103.2:p.Thr164Ile
XM_011536804.2:c.185C>T	XP_011535106.1:p.Thr62Ile
XM_011536805.2:c.185C>T	XP_011535107.1:p.Thr62Ile
XM_011536806.2:c.372+119C>T	XP_011535108.2:n.372+119C>T
NM_001354768.3:c.185C>T MANE Select	NP_001341697.1:p.Thr62Ile
NM_001354770.2:c.66+119C>T	NP_001341699.1:n.66+119C>T
NM_006177.5:c.185C>T	NP_006168.1:p.Thr62Ile