Canonical Allele Identifier: CA7122870

Gene: NRL

Linked Data

• ClinVar Variation Id: 1476457
• ClinVar RCV Id: RCV002008133
• dbSNP Id: rs760600732
• ExAC: 14:24551684 T / G
• gnomAD v2: 14-24551684-T-G
• gnomAD v4: 14-24082475-T-G
• MyVariant Identifiers: chr14:g.24551684T>G (hg19) ; chr14:g.24082475T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24082475T>G , CM000676.2:g.24082475T>G	GRCh38
NC_000014.8:g.24551684T>G , CM000676.1:g.24551684T>G	GRCh37
NC_000014.7:g.23621524T>G	NCBI36
NG_011697.1:g.7149A>C
NG_011697.2:g.37540A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.374A>C MANE Select	ENSP00000454062.2:p.His125Pro
ENST00000396997.1:c.374A>C	ENSP00000380193.1:p.His125Pro
ENST00000397002.6:c.374A>C	ENSP00000380197.2:p.His125Pro
ENST00000561028.5:c.374A>C	ENSP00000454062.1:p.His125Pro
NM_006177.3:c.374A>C	NP_006168.1:p.His125Pro
XM_005267708.3:c.374A>C	XP_005267765.1:p.His125Pro
XM_005267709.3:c.374A>C	XP_005267766.1:p.His125Pro
XM_005267710.3:c.374A>C	XP_005267767.1:p.His125Pro
XM_011536801.1:c.473A>C	XP_011535103.1:p.His158Pro
XM_011536802.1:c.374A>C	XP_011535104.1:p.His125Pro
XM_011536803.1:c.374A>C	XP_011535105.1:p.His125Pro
XM_011536804.1:c.374A>C	XP_011535106.1:p.His125Pro
XM_011536805.1:c.374A>C	XP_011535107.1:p.His125Pro
XM_011536806.1:c.165+308A>C	XP_011535108.1:n.165+308A>C
NM_001354768.1:c.374A>C	NP_001341697.1:p.His125Pro
NM_001354769.1:c.374A>C	NP_001341698.1:p.His125Pro
NM_001354770.1:c.66+308A>C	NP_001341699.1:n.66+308A>C
NM_006177.4:c.374A>C	NP_006168.1:p.His125Pro
XM_011536801.2:c.680A>C	XP_011535103.2:p.His227Pro
XM_011536804.2:c.374A>C	XP_011535106.1:p.His125Pro
XM_011536805.2:c.374A>C	XP_011535107.1:p.His125Pro
XM_011536806.2:c.372+308A>C	XP_011535108.2:n.372+308A>C
NM_001354768.3:c.374A>C MANE Select	NP_001341697.1:p.His125Pro
NM_001354770.2:c.66+308A>C	NP_001341699.1:n.66+308A>C
NM_006177.5:c.374A>C	NP_006168.1:p.His125Pro