Canonical Allele Identifier: CA360365459

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90627227-A-C
• MyVariant Identifiers: chr5:g.89923044A>C (hg19) ; chr5:g.90627227A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90627227A>C , CM000667.2:g.90627227A>C	GRCh38
NC_000005.9:g.89923044A>C , CM000667.1:g.89923044A>C	GRCh37
NC_000005.8:g.89958800A>C	NCBI36
NG_007083.1:g.73428A>C
NG_007083.2:g.102884A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.689A>C MANE Select	ENSP00000384582.2:p.Glu230Ala
ENST00000640083.1:n.394A>C
ENST00000640109.1:n.785A>C
ENST00000640281.1:n.748A>C
ENST00000405460.6:c.689A>C	ENSP00000384582.2:p.Glu230Ala
NM_032119.3:c.689A>C	NP_115495.3:p.Glu230Ala
NR_003149.1:n.785A>C
XM_011543675.1:c.689A>C	XP_011541977.1:p.Glu230Ala
XM_011543676.1:c.689A>C	XP_011541978.1:p.Glu230Ala
XM_011543678.1:c.689A>C	XP_011541980.1:p.Glu230Ala
XM_011543679.1:c.689A>C	XP_011541981.1:p.Glu230Ala
NM_032119.4:c.689A>C MANE Select	NP_115495.3:p.Glu230Ala
XM_017009963.2:c.689A>C	XP_016865452.1:p.Glu230Ala
XM_017009964.2:c.689A>C	XP_016865453.1:p.Glu230Ala
XM_017009965.1:c.686A>C	XP_016865454.1:p.Glu229Ala
XM_017009966.2:c.689A>C	XP_016865455.1:p.Glu230Ala
XM_017009967.1:c.593A>C	XP_016865456.1:p.Glu198Ala
XM_017009968.2:c.689A>C	XP_016865457.1:p.Glu230Ala
XM_017009969.2:c.689A>C	XP_016865458.1:p.Glu230Ala
XM_017009970.2:c.689A>C	XP_016865459.1:p.Glu230Ala
XM_017009971.2:c.689A>C	XP_016865460.1:p.Glu230Ala
XM_017009974.2:c.689A>C	XP_016865463.1:p.Glu230Ala
NR_003149.2:n.788A>C