Canonical Allele Identifier: CA485775748

Gene: NRL

Linked Data

• dbSNP Id: rs1395214247
• gnomAD v4: 14-24081383-G-C
• MyVariant Identifiers: chr14:g.24550592G>C (hg19) ; chr14:g.24081383G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081383G>C , CM000676.2:g.24081383G>C	GRCh38
NC_000014.8:g.24550592G>C , CM000676.1:g.24550592G>C	GRCh37
NC_000014.7:g.23620432G>C	NCBI36
NG_011697.1:g.8241C>G
NG_011697.2:g.38632C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.567C>G MANE Select	ENSP00000454062.2:p.Ala189=
ENST00000396995.1:c.150C>G	ENSP00000380191.1:p.Ala50=
ENST00000396997.1:c.567C>G	ENSP00000380193.1:p.Ala189=
ENST00000397002.6:c.567C>G	ENSP00000380197.2:p.Ala189=
ENST00000560550.1:c.150C>G	ENSP00000452966.1:p.Ala50=
ENST00000561028.5:c.567C>G	ENSP00000454062.1:p.Ala189=
NM_006177.3:c.567C>G	NP_006168.1:p.Ala189=
XM_005267708.3:c.567C>G	XP_005267765.1:p.Ala189=
XM_005267709.3:c.567C>G	XP_005267766.1:p.Ala189=
XM_005267710.3:c.567C>G	XP_005267767.1:p.Ala189=
XM_011536801.1:c.666C>G	XP_011535103.1:p.Ala222=
XM_011536802.1:c.567C>G	XP_011535104.1:p.Ala189=
XM_011536803.1:c.567C>G	XP_011535105.1:p.Ala189=
XM_011536804.1:c.567C>G	XP_011535106.1:p.Ala189=
XM_011536805.1:c.567C>G	XP_011535107.1:p.Ala189=
XM_011536806.1:c.351C>G	XP_011535108.1:p.Ala117=
NM_001354768.1:c.567C>G	NP_001341697.1:p.Ala189=
NM_001354769.1:c.567C>G	NP_001341698.1:p.Ala189=
NM_001354770.1:c.252C>G	NP_001341699.1:p.Ala84=
NM_006177.4:c.567C>G	NP_006168.1:p.Ala189=
XM_011536801.2:c.873C>G	XP_011535103.2:p.Ala291=
XM_011536804.2:c.567C>G	XP_011535106.1:p.Ala189=
XM_011536805.2:c.567C>G	XP_011535107.1:p.Ala189=
XM_011536806.2:c.558C>G	XP_011535108.2:p.Ala186=
NM_001354768.3:c.567C>G MANE Select	NP_001341697.1:p.Ala189=
NM_001354770.2:c.252C>G	NP_001341699.1:p.Ala84=
NM_006177.5:c.567C>G	NP_006168.1:p.Ala189=