Canonical Allele Identifier: CA389281344

Gene: NRL

Linked Data

• ClinVar Variation Id: 2275055
• ClinVar RCV Id: RCV002817695
• gnomAD v4: 14-24082676-A-G
• MyVariant Identifiers: chr14:g.24551885A>G (hg19) ; chr14:g.24082676A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24082676A>G , CM000676.2:g.24082676A>G	GRCh38
NC_000014.8:g.24551885A>G , CM000676.1:g.24551885A>G	GRCh37
NC_000014.7:g.23621725A>G	NCBI36
NG_011697.1:g.6948T>C
NG_011697.2:g.37339T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.173T>C MANE Select	ENSP00000454062.2:p.Met58Thr
ENST00000396997.1:c.173T>C	ENSP00000380193.1:p.Met58Thr
ENST00000397002.6:c.173T>C	ENSP00000380197.2:p.Met58Thr
ENST00000558280.1:c.173T>C	ENSP00000454180.1:p.Met58Thr
ENST00000561028.5:c.173T>C	ENSP00000454062.1:p.Met58Thr
NM_006177.3:c.173T>C	NP_006168.1:p.Met58Thr
XM_005267708.3:c.173T>C	XP_005267765.1:p.Met58Thr
XM_005267709.3:c.173T>C	XP_005267766.1:p.Met58Thr
XM_005267710.3:c.173T>C	XP_005267767.1:p.Met58Thr
XM_011536801.1:c.272T>C	XP_011535103.1:p.Met91Thr
XM_011536802.1:c.173T>C	XP_011535104.1:p.Met58Thr
XM_011536803.1:c.173T>C	XP_011535105.1:p.Met58Thr
XM_011536804.1:c.173T>C	XP_011535106.1:p.Met58Thr
XM_011536805.1:c.173T>C	XP_011535107.1:p.Met58Thr
XM_011536806.1:c.165+107T>C	XP_011535108.1:n.165+107T>C
NM_001354768.1:c.173T>C	NP_001341697.1:p.Met58Thr
NM_001354769.1:c.173T>C	NP_001341698.1:p.Met58Thr
NM_001354770.1:c.66+107T>C	NP_001341699.1:n.66+107T>C
NM_006177.4:c.173T>C	NP_006168.1:p.Met58Thr
XM_011536801.2:c.479T>C	XP_011535103.2:p.Met160Thr
XM_011536804.2:c.173T>C	XP_011535106.1:p.Met58Thr
XM_011536805.2:c.173T>C	XP_011535107.1:p.Met58Thr
XM_011536806.2:c.372+107T>C	XP_011535108.2:n.372+107T>C
NM_001354768.3:c.173T>C MANE Select	NP_001341697.1:p.Met58Thr
NM_001354770.2:c.66+107T>C	NP_001341699.1:n.66+107T>C
NM_006177.5:c.173T>C	NP_006168.1:p.Met58Thr