Canonical Allele Identifier: CA3338396
Gene: ADGRV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285514
dbSNP Id: rs199798095
gnomAD v2: 5-89910784-G-A
gnomAD v3: 5-90614967-G-A
gnomAD v4: 5-90614967-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90614967G>A , CM000667.2:g.90614967G>A GRCh38
NC_000005.9:g.89910784G>A , CM000667.1:g.89910784G>A GRCh37
NC_000005.8:g.89946540G>A NCBI36
NG_007083.1:g.61168G>A
NG_007083.2:g.90624G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.155G>A MANE Select ENSP00000384582.2:p.Arg52His
ENST00000638316.1:n.365G>A
ENST00000640109.1:n.251G>A
ENST00000640281.1:n.214G>A
ENST00000405460.6:c.155G>A ENSP00000384582.2:p.Arg52His
ENST00000508842.5:c.167G>A ENSP00000425936.1:p.Arg56His
NM_032119.3:c.155G>A NP_115495.3:p.Arg52His
NR_003149.1:n.251G>A
XM_011543675.1:c.155G>A XP_011541977.1:p.Arg52His
XM_011543676.1:c.155G>A XP_011541978.1:p.Arg52His
XM_011543678.1:c.155G>A XP_011541980.1:p.Arg52His
XM_011543679.1:c.155G>A XP_011541981.1:p.Arg52His
NM_032119.4:c.155G>A MANE Select NP_115495.3:p.Arg52His
XM_017009963.2:c.155G>A XP_016865452.1:p.Arg52His
XM_017009964.2:c.155G>A XP_016865453.1:p.Arg52His
XM_017009965.1:c.152G>A XP_016865454.1:p.Arg51His
XM_017009966.2:c.155G>A XP_016865455.1:p.Arg52His
XM_017009967.1:c.155G>A XP_016865456.1:p.Arg52His
XM_017009968.2:c.155G>A XP_016865457.1:p.Arg52His
XM_017009969.2:c.155G>A XP_016865458.1:p.Arg52His
XM_017009970.2:c.155G>A XP_016865459.1:p.Arg52His
XM_017009971.2:c.155G>A XP_016865460.1:p.Arg52His
XM_017009974.2:c.155G>A XP_016865463.1:p.Arg52His
NR_003149.2:n.254G>A