Canonical Allele Identifier: CA389277925

Gene: NRL

Linked Data

• ClinVar Variation Id: 950435
• ClinVar RCV Id: RCV001222143 ; RCV002563027
• dbSNP Id: rs2036290232
• gnomAD v4: 14-24081435-T-A
• MyVariant Identifiers: chr14:g.24550644T>A (hg19) ; chr14:g.24081435T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081435T>A , CM000676.2:g.24081435T>A	GRCh38
NC_000014.8:g.24550644T>A , CM000676.1:g.24550644T>A	GRCh37
NC_000014.7:g.23620484T>A	NCBI36
NG_011697.1:g.8189A>T
NG_011697.2:g.38580A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.515A>T MANE Select	ENSP00000454062.2:p.Tyr172Phe
ENST00000396995.1:c.98A>T	ENSP00000380191.1:p.Tyr33Phe
ENST00000396997.1:c.515A>T	ENSP00000380193.1:p.Tyr172Phe
ENST00000397002.6:c.515A>T	ENSP00000380197.2:p.Tyr172Phe
ENST00000560550.1:c.98A>T	ENSP00000452966.1:p.Tyr33Phe
ENST00000561028.5:c.515A>T	ENSP00000454062.1:p.Tyr172Phe
NM_006177.3:c.515A>T	NP_006168.1:p.Tyr172Phe
XM_005267708.3:c.515A>T	XP_005267765.1:p.Tyr172Phe
XM_005267709.3:c.515A>T	XP_005267766.1:p.Tyr172Phe
XM_005267710.3:c.515A>T	XP_005267767.1:p.Tyr172Phe
XM_011536801.1:c.614A>T	XP_011535103.1:p.Tyr205Phe
XM_011536802.1:c.515A>T	XP_011535104.1:p.Tyr172Phe
XM_011536803.1:c.515A>T	XP_011535105.1:p.Tyr172Phe
XM_011536804.1:c.515A>T	XP_011535106.1:p.Tyr172Phe
XM_011536805.1:c.515A>T	XP_011535107.1:p.Tyr172Phe
XM_011536806.1:c.299A>T	XP_011535108.1:p.Tyr100Phe
NM_001354768.1:c.515A>T	NP_001341697.1:p.Tyr172Phe
NM_001354769.1:c.515A>T	NP_001341698.1:p.Tyr172Phe
NM_001354770.1:c.200A>T	NP_001341699.1:p.Tyr67Phe
NM_006177.4:c.515A>T	NP_006168.1:p.Tyr172Phe
XM_011536801.2:c.821A>T	XP_011535103.2:p.Tyr274Phe
XM_011536804.2:c.515A>T	XP_011535106.1:p.Tyr172Phe
XM_011536805.2:c.515A>T	XP_011535107.1:p.Tyr172Phe
XM_011536806.2:c.506A>T	XP_011535108.2:p.Tyr169Phe
NM_001354768.3:c.515A>T MANE Select	NP_001341697.1:p.Tyr172Phe
NM_001354770.2:c.200A>T	NP_001341699.1:p.Tyr67Phe
NM_006177.5:c.515A>T	NP_006168.1:p.Tyr172Phe