Canonical Allele Identifier: CA121835097

Gene: ADGRV1

Linked Data

• dbSNP Id: rs372748882
• gnomAD v2: 5-89940586-G-A
• gnomAD v4: 5-90644769-G-A
• MyVariant Identifiers: chr5:g.89940586G>A (hg19) ; chr5:g.90644769G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90644769G>A , CM000667.2:g.90644769G>A	GRCh38
NC_000005.9:g.89940586G>A , CM000667.1:g.89940586G>A	GRCh37
NC_000005.8:g.89976342G>A	NCBI36
NG_007083.1:g.90970G>A
NG_007083.2:g.120426G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.2798G>A MANE Select	ENSP00000384582.2:p.Ser933Asn
ENST00000504142.2:n.1564G>A
ENST00000639676.1:n.396G>A
ENST00000640403.1:c.101G>A	ENSP00000492531.1:p.Ser34Asn
ENST00000405460.6:c.2798G>A	ENSP00000384582.2:p.Ser933Asn
ENST00000504142.1:c.1563G>A
NM_032119.3:c.2798G>A	NP_115495.3:p.Ser933Asn
NR_003149.1:n.2894G>A
XM_011543675.1:c.2798G>A	XP_011541977.1:p.Ser933Asn
XM_011543676.1:c.2798G>A	XP_011541978.1:p.Ser933Asn
XM_011543677.1:c.101G>A	XP_011541979.1:p.Ser34Asn
XM_011543678.1:c.2798G>A	XP_011541980.1:p.Ser933Asn
XM_011543679.1:c.2798G>A	XP_011541981.1:p.Ser933Asn
NM_032119.4:c.2798G>A MANE Select	NP_115495.3:p.Ser933Asn
XM_017009963.2:c.2798G>A	XP_016865452.1:p.Ser933Asn
XM_017009964.2:c.2798G>A	XP_016865453.1:p.Ser933Asn
XM_017009965.1:c.2795G>A	XP_016865454.1:p.Ser932Asn
XM_017009966.2:c.2798G>A	XP_016865455.1:p.Ser933Asn
XM_017009967.1:c.2702G>A	XP_016865456.1:p.Ser901Asn
XM_017009968.2:c.2798G>A	XP_016865457.1:p.Ser933Asn
XM_017009969.2:c.2798G>A	XP_016865458.1:p.Ser933Asn
XM_017009970.2:c.2798G>A	XP_016865459.1:p.Ser933Asn
XM_017009971.2:c.2798G>A	XP_016865460.1:p.Ser933Asn
XM_017009974.2:c.2798G>A	XP_016865463.1:p.Ser933Asn
NR_003149.2:n.2897G>A