Canonical Allele Identifier: CA7122909

Gene: NRL

Linked Data

• ClinVar Variation Id: 1426949
• ClinVar RCV Id: RCV001933509
• dbSNP Id: rs765131883
• ExAC: 14:24551861 C / A
• gnomAD v2: 14-24551861-C-A
• gnomAD v3: 14-24082652-C-A
• gnomAD v4: 14-24082652-C-A
• MyVariant Identifiers: chr14:g.24551861C>A (hg19) ; chr14:g.24082652C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24082652C>A , CM000676.2:g.24082652C>A	GRCh38
NC_000014.8:g.24551861C>A , CM000676.1:g.24551861C>A	GRCh37
NC_000014.7:g.23621701C>A	NCBI36
NG_011697.1:g.6972G>T
NG_011697.2:g.37363G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.197G>T MANE Select	ENSP00000454062.2:p.Arg66Leu
ENST00000396997.1:c.197G>T	ENSP00000380193.1:p.Arg66Leu
ENST00000397002.6:c.197G>T	ENSP00000380197.2:p.Arg66Leu
ENST00000561028.5:c.197G>T	ENSP00000454062.1:p.Arg66Leu
NM_006177.3:c.197G>T	NP_006168.1:p.Arg66Leu
XM_005267708.3:c.197G>T	XP_005267765.1:p.Arg66Leu
XM_005267709.3:c.197G>T	XP_005267766.1:p.Arg66Leu
XM_005267710.3:c.197G>T	XP_005267767.1:p.Arg66Leu
XM_011536801.1:c.296G>T	XP_011535103.1:p.Arg99Leu
XM_011536802.1:c.197G>T	XP_011535104.1:p.Arg66Leu
XM_011536803.1:c.197G>T	XP_011535105.1:p.Arg66Leu
XM_011536804.1:c.197G>T	XP_011535106.1:p.Arg66Leu
XM_011536805.1:c.197G>T	XP_011535107.1:p.Arg66Leu
XM_011536806.1:c.165+131G>T	XP_011535108.1:n.165+131G>T
NM_001354768.1:c.197G>T	NP_001341697.1:p.Arg66Leu
NM_001354769.1:c.197G>T	NP_001341698.1:p.Arg66Leu
NM_001354770.1:c.66+131G>T	NP_001341699.1:n.66+131G>T
NM_006177.4:c.197G>T	NP_006168.1:p.Arg66Leu
XM_011536801.2:c.503G>T	XP_011535103.2:p.Arg168Leu
XM_011536804.2:c.197G>T	XP_011535106.1:p.Arg66Leu
XM_011536805.2:c.197G>T	XP_011535107.1:p.Arg66Leu
XM_011536806.2:c.372+131G>T	XP_011535108.2:n.372+131G>T
NM_001354768.3:c.197G>T MANE Select	NP_001341697.1:p.Arg66Leu
NM_001354770.2:c.66+131G>T	NP_001341699.1:n.66+131G>T
NM_006177.5:c.197G>T	NP_006168.1:p.Arg66Leu