Canonical Allele Identifier: CA224743944

Gene: UVRAG

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.75829541A>G , CM000673.2:g.75829541A>G	GRCh38
NC_000011.9:g.75540586A>G , CM000673.1:g.75540586A>G	GRCh37
NC_000011.8:g.75218234A>G	NCBI36
NG_046930.1:g.19375A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356136.8:c.117+14017A>G MANE Select	ENSP00000348455.3:n.117+14017A>G
ENST00000356136.7:c.117+14017A>G	ENSP00000348455.3:n.117+14017A>G
NM_003369.3:c.117+14017A>G	NP_003360.2:n.117+14017A>G
XM_006718674.2:c.117+14017A>G	XP_006718737.1:n.117+14017A>G
XM_006718675.2:c.117+14017A>G	XP_006718738.1:n.117+14017A>G
XM_011545226.1:c.117+14017A>G	XP_011543528.1:n.117+14017A>G
XM_011545227.1:c.117+14017A>G	XP_011543529.1:n.117+14017A>G
XM_011545228.1:c.117+14017A>G	XP_011543530.1:n.117+14017A>G
XR_950027.1:n.358+14017A>G
XM_011545226.3:c.117+14017A>G	XP_011543528.1:n.117+14017A>G
XM_011545227.3:c.117+14017A>G	XP_011543529.1:n.117+14017A>G
XM_011545228.3:c.117+14017A>G	XP_011543530.1:n.117+14017A>G
XM_017018226.2:c.117+14017A>G	XP_016873715.1:n.117+14017A>G
XR_001747949.2:n.336+14017A>G
XR_001747950.2:n.336+14017A>G
XR_001747951.2:n.336+14017A>G
NM_003369.4:c.117+14017A>G MANE Select	NP_003360.2:n.117+14017A>G
NM_001386671.1:c.117+14017A>G	NP_001373600.1:n.117+14017A>G
NM_001386672.1:c.117+14017A>G	NP_001373601.1:n.117+14017A>G
NM_001386673.1:c.117+14017A>G	NP_001373602.1:n.117+14017A>G
NM_001386674.1:c.117+14017A>G	NP_001373603.1:n.117+14017A>G
NR_170160.1:n.315+14017A>G
NR_170161.1:n.315+14017A>G