Canonical Allele Identifier: CA360367311

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1490421370
• gnomAD v4: 5-90755163-A-G
• MyVariant Identifiers: chr5:g.90050980A>G (hg19) ; chr5:g.90755163A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755163A>G , CM000667.2:g.90755163A>G	GRCh38
NC_000005.9:g.90050980A>G , CM000667.1:g.90050980A>G	GRCh37
NC_000005.8:g.90086736A>G	NCBI36
NG_007083.1:g.201364A>G
NG_007083.2:g.230820A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11558A>G MANE Select	ENSP00000384582.2:p.His3853Arg
ENST00000425867.3:c.689A>G	ENSP00000392618.3:p.His230Arg
ENST00000639431.1:c.265+78954A>G	ENSP00000491057.1:n.265+78954A>G
ENST00000640374.1:n.4702A>G
ENST00000640464.1:n.1977A>G
ENST00000405460.6:c.11558A>G	ENSP00000384582.2:p.His3853Arg
ENST00000509621.1:c.4255A>G
NM_032119.3:c.11558A>G	NP_115495.3:p.His3853Arg
NR_003149.1:n.11571A>G
XM_011543675.1:c.11555A>G	XP_011541977.1:p.His3852Arg
XM_011543676.1:c.11477A>G	XP_011541978.1:p.His3826Arg
XM_011543677.1:c.8861A>G	XP_011541979.1:p.His2954Arg
XM_011543678.1:c.11558A>G	XP_011541980.1:p.His3853Arg
NM_032119.4:c.11558A>G MANE Select	NP_115495.3:p.His3853Arg
XM_017009963.2:c.11579A>G	XP_016865452.1:p.His3860Arg
XM_017009964.2:c.11576A>G	XP_016865453.1:p.His3859Arg
XM_017009965.1:c.11576A>G	XP_016865454.1:p.His3859Arg
XM_017009966.2:c.11498A>G	XP_016865455.1:p.His3833Arg
XM_017009967.1:c.11483A>G	XP_016865456.1:p.His3828Arg
XM_017009968.2:c.11579A>G	XP_016865457.1:p.His3860Arg
XM_017009969.2:c.11579A>G	XP_016865458.1:p.His3860Arg
XM_017009970.2:c.11579A>G	XP_016865459.1:p.His3860Arg
XM_017009971.2:c.11579A>G	XP_016865460.1:p.His3860Arg
XM_017009972.1:c.4697A>G	XP_016865461.1:p.His1566Arg
XM_017009973.1:c.4676A>G	XP_016865462.1:p.His1559Arg
NR_003149.2:n.11574A>G