Canonical Allele Identifier: CA389279880

Gene: NRL

Linked Data

• MyVariant Identifiers: chr14:g.24551758C>A (hg19) ; chr14:g.24082549C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24082549C>A , CM000676.2:g.24082549C>A	GRCh38
NC_000014.8:g.24551758C>A , CM000676.1:g.24551758C>A	GRCh37
NC_000014.7:g.23621598C>A	NCBI36
NG_011697.1:g.7075G>T
NG_011697.2:g.37466G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.300G>T MANE Select	ENSP00000454062.2:p.Gln100His
ENST00000396997.1:c.300G>T	ENSP00000380193.1:p.Gln100His
ENST00000397002.6:c.300G>T	ENSP00000380197.2:p.Gln100His
ENST00000561028.5:c.300G>T	ENSP00000454062.1:p.Gln100His
NM_006177.3:c.300G>T	NP_006168.1:p.Gln100His
XM_005267708.3:c.300G>T	XP_005267765.1:p.Gln100His
XM_005267709.3:c.300G>T	XP_005267766.1:p.Gln100His
XM_005267710.3:c.300G>T	XP_005267767.1:p.Gln100His
XM_011536801.1:c.399G>T	XP_011535103.1:p.Gln133His
XM_011536802.1:c.300G>T	XP_011535104.1:p.Gln100His
XM_011536803.1:c.300G>T	XP_011535105.1:p.Gln100His
XM_011536804.1:c.300G>T	XP_011535106.1:p.Gln100His
XM_011536805.1:c.300G>T	XP_011535107.1:p.Gln100His
XM_011536806.1:c.165+234G>T	XP_011535108.1:n.165+234G>T
NM_001354768.1:c.300G>T	NP_001341697.1:p.Gln100His
NM_001354769.1:c.300G>T	NP_001341698.1:p.Gln100His
NM_001354770.1:c.66+234G>T	NP_001341699.1:n.66+234G>T
NM_006177.4:c.300G>T	NP_006168.1:p.Gln100His
XM_011536801.2:c.606G>T	XP_011535103.2:p.Gln202His
XM_011536804.2:c.300G>T	XP_011535106.1:p.Gln100His
XM_011536805.2:c.300G>T	XP_011535107.1:p.Gln100His
XM_011536806.2:c.372+234G>T	XP_011535108.2:n.372+234G>T
NM_001354768.3:c.300G>T MANE Select	NP_001341697.1:p.Gln100His
NM_001354770.2:c.66+234G>T	NP_001341699.1:n.66+234G>T
NM_006177.5:c.300G>T	NP_006168.1:p.Gln100His