Canonical Allele Identifier: CA389280814

Gene: NRL

Linked Data

• ClinVar Variation Id: 884209
• ClinVar RCV Id: RCV001115180
• dbSNP Id: rs149921817
• MyVariant Identifiers: chr14:g.24551831G>C (hg19) ; chr14:g.24082622G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24082622G>C , CM000676.2:g.24082622G>C	GRCh38
NC_000014.8:g.24551831G>C , CM000676.1:g.24551831G>C	GRCh37
NC_000014.7:g.23621671G>C	NCBI36
NG_011697.1:g.7002C>G
NG_011697.2:g.37393C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.227C>G MANE Select	ENSP00000454062.2:p.Ala76Gly
ENST00000396997.1:c.227C>G	ENSP00000380193.1:p.Ala76Gly
ENST00000397002.6:c.227C>G	ENSP00000380197.2:p.Ala76Gly
ENST00000561028.5:c.227C>G	ENSP00000454062.1:p.Ala76Gly
NM_006177.3:c.227C>G	NP_006168.1:p.Ala76Gly
XM_005267708.3:c.227C>G	XP_005267765.1:p.Ala76Gly
XM_005267709.3:c.227C>G	XP_005267766.1:p.Ala76Gly
XM_005267710.3:c.227C>G	XP_005267767.1:p.Ala76Gly
XM_011536801.1:c.326C>G	XP_011535103.1:p.Ala109Gly
XM_011536802.1:c.227C>G	XP_011535104.1:p.Ala76Gly
XM_011536803.1:c.227C>G	XP_011535105.1:p.Ala76Gly
XM_011536804.1:c.227C>G	XP_011535106.1:p.Ala76Gly
XM_011536805.1:c.227C>G	XP_011535107.1:p.Ala76Gly
XM_011536806.1:c.165+161C>G	XP_011535108.1:n.165+161C>G
NM_001354768.1:c.227C>G	NP_001341697.1:p.Ala76Gly
NM_001354769.1:c.227C>G	NP_001341698.1:p.Ala76Gly
NM_001354770.1:c.66+161C>G	NP_001341699.1:n.66+161C>G
NM_006177.4:c.227C>G	NP_006168.1:p.Ala76Gly
XM_011536801.2:c.533C>G	XP_011535103.2:p.Ala178Gly
XM_011536804.2:c.227C>G	XP_011535106.1:p.Ala76Gly
XM_011536805.2:c.227C>G	XP_011535107.1:p.Ala76Gly
XM_011536806.2:c.372+161C>G	XP_011535108.2:n.372+161C>G
NM_001354768.3:c.227C>G MANE Select	NP_001341697.1:p.Ala76Gly
NM_001354770.2:c.66+161C>G	NP_001341699.1:n.66+161C>G
NM_006177.5:c.227C>G	NP_006168.1:p.Ala76Gly