Canonical Allele Identifier: CA389280874

Gene: NRL

Linked Data

• gnomAD v4: 14-24082628-C-A
• MyVariant Identifiers: chr14:g.24551837C>A (hg19) ; chr14:g.24082628C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24082628C>A , CM000676.2:g.24082628C>A	GRCh38
NC_000014.8:g.24551837C>A , CM000676.1:g.24551837C>A	GRCh37
NC_000014.7:g.23621677C>A	NCBI36
NG_011697.1:g.6996G>T
NG_011697.2:g.37387G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.221G>T MANE Select	ENSP00000454062.2:p.Trp74Leu
ENST00000396997.1:c.221G>T	ENSP00000380193.1:p.Trp74Leu
ENST00000397002.6:c.221G>T	ENSP00000380197.2:p.Trp74Leu
ENST00000561028.5:c.221G>T	ENSP00000454062.1:p.Trp74Leu
NM_006177.3:c.221G>T	NP_006168.1:p.Trp74Leu
XM_005267708.3:c.221G>T	XP_005267765.1:p.Trp74Leu
XM_005267709.3:c.221G>T	XP_005267766.1:p.Trp74Leu
XM_005267710.3:c.221G>T	XP_005267767.1:p.Trp74Leu
XM_011536801.1:c.320G>T	XP_011535103.1:p.Trp107Leu
XM_011536802.1:c.221G>T	XP_011535104.1:p.Trp74Leu
XM_011536803.1:c.221G>T	XP_011535105.1:p.Trp74Leu
XM_011536804.1:c.221G>T	XP_011535106.1:p.Trp74Leu
XM_011536805.1:c.221G>T	XP_011535107.1:p.Trp74Leu
XM_011536806.1:c.165+155G>T	XP_011535108.1:n.165+155G>T
NM_001354768.1:c.221G>T	NP_001341697.1:p.Trp74Leu
NM_001354769.1:c.221G>T	NP_001341698.1:p.Trp74Leu
NM_001354770.1:c.66+155G>T	NP_001341699.1:n.66+155G>T
NM_006177.4:c.221G>T	NP_006168.1:p.Trp74Leu
XM_011536801.2:c.527G>T	XP_011535103.2:p.Trp176Leu
XM_011536804.2:c.221G>T	XP_011535106.1:p.Trp74Leu
XM_011536805.2:c.221G>T	XP_011535107.1:p.Trp74Leu
XM_011536806.2:c.372+155G>T	XP_011535108.2:n.372+155G>T
NM_001354768.3:c.221G>T MANE Select	NP_001341697.1:p.Trp74Leu
NM_001354770.2:c.66+155G>T	NP_001341699.1:n.66+155G>T
NM_006177.5:c.221G>T	NP_006168.1:p.Trp74Leu