Canonical Allele Identifier: CA350522

Gene: UVRAG

Linked Data

• ClinVar Variation Id: 219329
• ClinVar RCV Id: RCV000206501
• dbSNP Id: rs864622029
• gnomAD v4: 11-75888896-A-G
• COSMIC: COSM5783212
• MyVariant Identifiers: chr11:g.75599940A>G (hg19) ; chr11:g.75888896A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.75888896A>G , CM000673.2:g.75888896A>G	GRCh38
NC_000011.9:g.75599940A>G , CM000673.1:g.75599940A>G	GRCh37
NC_000011.8:g.75277588A>G	NCBI36
NG_046930.1:g.78730A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356136.8:c.500A>G MANE Select	ENSP00000348455.3:p.Glu167Gly
ENST00000356136.7:c.500A>G	ENSP00000348455.3:p.Glu167Gly
ENST00000528264.1:c.197A>G	ENSP00000433613.1:p.Glu66Gly
ENST00000528420.5:c.197A>G	ENSP00000436039.1:p.Glu66Gly
NM_003369.3:c.500A>G	NP_003360.2:p.Glu167Gly
XM_006718674.2:c.500A>G	XP_006718737.1:p.Glu167Gly
XM_006718675.2:c.500A>G	XP_006718738.1:p.Glu167Gly
XM_011545226.1:c.500A>G	XP_011543528.1:p.Glu167Gly
XM_011545227.1:c.500A>G	XP_011543529.1:p.Glu167Gly
XM_011545228.1:c.500A>G	XP_011543530.1:p.Glu167Gly
XR_950027.1:n.741A>G
XM_011545226.3:c.500A>G	XP_011543528.1:p.Glu167Gly
XM_011545227.3:c.500A>G	XP_011543529.1:p.Glu167Gly
XM_011545228.3:c.500A>G	XP_011543530.1:p.Glu167Gly
XM_017018226.2:c.500A>G	XP_016873715.1:p.Glu167Gly
XR_001747949.2:n.719A>G
XR_001747950.2:n.719A>G
XR_001747951.2:n.719A>G
NM_003369.4:c.500A>G MANE Select	NP_003360.2:p.Glu167Gly
NM_001386671.1:c.500A>G	NP_001373600.1:p.Glu167Gly
NM_001386672.1:c.338A>G	NP_001373601.1:p.Glu113Gly
NM_001386673.1:c.500A>G	NP_001373602.1:p.Glu167Gly
NM_001386674.1:c.500A>G	NP_001373603.1:p.Glu167Gly
NR_170160.1:n.698A>G
NR_170161.1:n.698A>G