Canonical Allele Identifier: CA360404371

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1382255191
• gnomAD v4: 5-90728862-G-A
• MyVariant Identifiers: chr5:g.90024679G>A (hg19) ; chr5:g.90728862G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90728862G>A , CM000667.2:g.90728862G>A	GRCh38
NC_000005.9:g.90024679G>A , CM000667.1:g.90024679G>A	GRCh37
NC_000005.8:g.90060435G>A	NCBI36
NG_007083.1:g.175063G>A
NG_007083.2:g.204519G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10355G>A MANE Select	ENSP00000384582.2:p.Gly3452Glu
ENST00000639431.1:c.265+52653G>A	ENSP00000491057.1:n.265+52653G>A
ENST00000640374.1:n.3499G>A
ENST00000640464.1:n.774G>A
ENST00000405460.6:c.10355G>A	ENSP00000384582.2:p.Gly3452Glu
ENST00000509621.1:c.3052G>A
NM_032119.3:c.10355G>A	NP_115495.3:p.Gly3452Glu
NR_003149.1:n.10368G>A
XM_011543675.1:c.10352G>A	XP_011541977.1:p.Gly3451Glu
XM_011543676.1:c.10274G>A	XP_011541978.1:p.Gly3425Glu
XM_011543677.1:c.7658G>A	XP_011541979.1:p.Gly2553Glu
XM_011543678.1:c.10355G>A	XP_011541980.1:p.Gly3452Glu
XM_011543679.1:c.10355G>A	XP_011541981.1:p.Gly3452Glu
XR_948560.1:n.271+12045C>T
NM_032119.4:c.10355G>A MANE Select	NP_115495.3:p.Gly3452Glu
XM_017009963.2:c.10376G>A	XP_016865452.1:p.Gly3459Glu
XM_017009964.2:c.10373G>A	XP_016865453.1:p.Gly3458Glu
XM_017009965.1:c.10373G>A	XP_016865454.1:p.Gly3458Glu
XM_017009966.2:c.10295G>A	XP_016865455.1:p.Gly3432Glu
XM_017009967.1:c.10280G>A	XP_016865456.1:p.Gly3427Glu
XM_017009968.2:c.10376G>A	XP_016865457.1:p.Gly3459Glu
XM_017009969.2:c.10376G>A	XP_016865458.1:p.Gly3459Glu
XM_017009970.2:c.10376G>A	XP_016865459.1:p.Gly3459Glu
XM_017009971.2:c.10376G>A	XP_016865460.1:p.Gly3459Glu
XM_017009972.1:c.3494G>A	XP_016865461.1:p.Gly1165Glu
XM_017009973.1:c.3473G>A	XP_016865462.1:p.Gly1158Glu
XM_017009974.2:c.10376G>A	XP_016865463.1:p.Gly3459Glu
XR_001742802.1:n.2522+12045C>T
NR_003149.2:n.10371G>A