Canonical Allele Identifier: CA257868054

Gene: NRL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081305G>A , CM000676.2:g.24081305G>A	GRCh38
NC_000014.8:g.24550514G>A , CM000676.1:g.24550514G>A	GRCh37
NC_000014.7:g.23620354G>A	NCBI36
NG_011697.1:g.8319C>T
NG_011697.2:g.38710C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001354768.3:c.645C>T MANE Select	NP_001341697.1:p.Tyr215=
ENST00000561028.6:c.645C>T MANE Select	ENSP00000454062.2:p.Tyr215=
NM_001354768.1:c.645C>T	NP_001341697.1:p.Tyr215=
NM_001354769.1:c.645C>T	NP_001341698.1:p.Tyr215=
NM_001354770.1:c.330C>T	NP_001341699.1:p.Tyr110=
NM_001354770.2:c.330C>T	NP_001341699.1:p.Tyr110=
NM_006177.3:c.645C>T	NP_006168.1:p.Tyr215=
NM_006177.4:c.645C>T	NP_006168.1:p.Tyr215=
NM_006177.5:c.645C>T	NP_006168.1:p.Tyr215=
ENST00000396995.1:c.228C>T	ENSP00000380191.1:p.Tyr76=
ENST00000396997.1:c.645C>T	ENSP00000380193.1:p.Tyr215=
ENST00000397002.6:c.645C>T	ENSP00000380197.2:p.Tyr215=
ENST00000560550.1:c.228C>T	ENSP00000452966.1:p.Tyr76=
ENST00000561028.5:c.645C>T	ENSP00000454062.1:p.Tyr215=
XM_005267708.3:c.645C>T	XP_005267765.1:p.Tyr215=
XM_005267709.3:c.645C>T	XP_005267766.1:p.Tyr215=
XM_005267710.3:c.645C>T	XP_005267767.1:p.Tyr215=
XM_011536801.1:c.744C>T	XP_011535103.1:p.Tyr248=
XM_011536801.2:c.951C>T	XP_011535103.2:p.Tyr317=
XM_011536802.1:c.645C>T	XP_011535104.1:p.Tyr215=
XM_011536803.1:c.645C>T	XP_011535105.1:p.Tyr215=
XM_011536804.1:c.645C>T	XP_011535106.1:p.Tyr215=
XM_011536804.2:c.645C>T	XP_011535106.1:p.Tyr215=
XM_011536805.1:c.645C>T	XP_011535107.1:p.Tyr215=
XM_011536805.2:c.645C>T	XP_011535107.1:p.Tyr215=
XM_011536806.1:c.429C>T	XP_011535108.1:p.Tyr143=
XM_011536806.2:c.636C>T	XP_011535108.2:p.Tyr212=