Canonical Allele Identifier: CA121825217

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1043311658
• gnomAD v4: 5-90627340-A-G
• MyVariant Identifiers: chr5:g.89923157A>G (hg19) ; chr5:g.90627340A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90627340A>G , CM000667.2:g.90627340A>G	GRCh38
NC_000005.9:g.89923157A>G , CM000667.1:g.89923157A>G	GRCh37
NC_000005.8:g.89958913A>G	NCBI36
NG_007083.1:g.73541A>G
NG_007083.2:g.102997A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.802A>G MANE Select	ENSP00000384582.2:p.Ser268Gly
ENST00000640083.1:n.507A>G
ENST00000640109.1:n.898A>G
ENST00000640281.1:n.861A>G
ENST00000405460.6:c.802A>G	ENSP00000384582.2:p.Ser268Gly
NM_032119.3:c.802A>G	NP_115495.3:p.Ser268Gly
NR_003149.1:n.898A>G
XM_011543675.1:c.802A>G	XP_011541977.1:p.Ser268Gly
XM_011543676.1:c.802A>G	XP_011541978.1:p.Ser268Gly
XM_011543678.1:c.802A>G	XP_011541980.1:p.Ser268Gly
XM_011543679.1:c.802A>G	XP_011541981.1:p.Ser268Gly
NM_032119.4:c.802A>G MANE Select	NP_115495.3:p.Ser268Gly
XM_017009963.2:c.802A>G	XP_016865452.1:p.Ser268Gly
XM_017009964.2:c.802A>G	XP_016865453.1:p.Ser268Gly
XM_017009965.1:c.799A>G	XP_016865454.1:p.Ser267Gly
XM_017009966.2:c.802A>G	XP_016865455.1:p.Ser268Gly
XM_017009967.1:c.706A>G	XP_016865456.1:p.Ser236Gly
XM_017009968.2:c.802A>G	XP_016865457.1:p.Ser268Gly
XM_017009969.2:c.802A>G	XP_016865458.1:p.Ser268Gly
XM_017009970.2:c.802A>G	XP_016865459.1:p.Ser268Gly
XM_017009971.2:c.802A>G	XP_016865460.1:p.Ser268Gly
XM_017009974.2:c.802A>G	XP_016865463.1:p.Ser268Gly
NR_003149.2:n.901A>G