Canonical Allele Identifier: CA389276274

Gene: NRL

Linked Data

• gnomAD v4: 14-24081282-G-C
• MyVariant Identifiers: chr14:g.24550491G>C (hg19) ; chr14:g.24081282G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081282G>C , CM000676.2:g.24081282G>C	GRCh38
NC_000014.8:g.24550491G>C , CM000676.1:g.24550491G>C	GRCh37
NC_000014.7:g.23620331G>C	NCBI36
NG_011697.1:g.8342C>G
NG_011697.2:g.38733C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.668C>G MANE Select	ENSP00000454062.2:p.Thr223Ser
ENST00000396995.1:c.251C>G	ENSP00000380191.1:p.Thr84Ser
ENST00000396997.1:c.668C>G	ENSP00000380193.1:p.Thr223Ser
ENST00000397002.6:c.668C>G	ENSP00000380197.2:p.Thr223Ser
ENST00000560550.1:c.251C>G	ENSP00000452966.1:p.Thr84Ser
ENST00000561028.5:c.668C>G	ENSP00000454062.1:p.Thr223Ser
NM_006177.3:c.668C>G	NP_006168.1:p.Thr223Ser
XM_005267708.3:c.668C>G	XP_005267765.1:p.Thr223Ser
XM_005267709.3:c.668C>G	XP_005267766.1:p.Thr223Ser
XM_005267710.3:c.668C>G	XP_005267767.1:p.Thr223Ser
XM_011536801.1:c.767C>G	XP_011535103.1:p.Thr256Ser
XM_011536802.1:c.668C>G	XP_011535104.1:p.Thr223Ser
XM_011536803.1:c.668C>G	XP_011535105.1:p.Thr223Ser
XM_011536804.1:c.668C>G	XP_011535106.1:p.Thr223Ser
XM_011536805.1:c.668C>G	XP_011535107.1:p.Thr223Ser
XM_011536806.1:c.452C>G	XP_011535108.1:p.Thr151Ser
NM_001354768.1:c.668C>G	NP_001341697.1:p.Thr223Ser
NM_001354769.1:c.668C>G	NP_001341698.1:p.Thr223Ser
NM_001354770.1:c.353C>G	NP_001341699.1:p.Thr118Ser
NM_006177.4:c.668C>G	NP_006168.1:p.Thr223Ser
XM_011536801.2:c.974C>G	XP_011535103.2:p.Thr325Ser
XM_011536804.2:c.668C>G	XP_011535106.1:p.Thr223Ser
XM_011536805.2:c.668C>G	XP_011535107.1:p.Thr223Ser
XM_011536806.2:c.659C>G	XP_011535108.2:p.Thr220Ser
NM_001354768.3:c.668C>G MANE Select	NP_001341697.1:p.Thr223Ser
NM_001354770.2:c.353C>G	NP_001341699.1:p.Thr118Ser
NM_006177.5:c.668C>G	NP_006168.1:p.Thr223Ser