Canonical Allele Identifier: CA360377089

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90763314-G-C
• MyVariant Identifiers: chr5:g.90059131G>C (hg19) ; chr5:g.90763314G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763314G>C , CM000667.2:g.90763314G>C	GRCh38
NC_000005.9:g.90059131G>C , CM000667.1:g.90059131G>C	GRCh37
NC_000005.8:g.90094887G>C	NCBI36
NG_007083.1:g.209515G>C
NG_007083.2:g.238971G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12130G>C MANE Select	ENSP00000384582.2:p.Asp4044His
ENST00000425867.3:c.1084G>C	ENSP00000392618.3:p.Asp362His
ENST00000639431.1:c.265+87105G>C	ENSP00000491057.1:n.265+87105G>C
ENST00000640464.1:n.2549G>C
ENST00000640729.1:n.707G>C
ENST00000405460.6:c.12130G>C	ENSP00000384582.2:p.Asp4044His
NM_032119.3:c.12130G>C	NP_115495.3:p.Asp4044His
NR_003149.1:n.12143G>C
XM_011543675.1:c.12127G>C	XP_011541977.1:p.Asp4043His
XM_011543676.1:c.12049G>C	XP_011541978.1:p.Asp4017His
XM_011543677.1:c.9433G>C	XP_011541979.1:p.Asp3145His
XM_011543678.1:c.12130G>C	XP_011541980.1:p.Asp4044His
NM_032119.4:c.12130G>C MANE Select	NP_115495.3:p.Asp4044His
XM_017009963.2:c.12151G>C	XP_016865452.1:p.Asp4051His
XM_017009964.2:c.12148G>C	XP_016865453.1:p.Asp4050His
XM_017009965.1:c.12148G>C	XP_016865454.1:p.Asp4050His
XM_017009966.2:c.12070G>C	XP_016865455.1:p.Asp4024His
XM_017009967.1:c.12055G>C	XP_016865456.1:p.Asp4019His
XM_017009968.2:c.12151G>C	XP_016865457.1:p.Asp4051His
XM_017009969.2:c.12151G>C	XP_016865458.1:p.Asp4051His
XM_017009970.2:c.12151G>C	XP_016865459.1:p.Asp4051His
XM_017009971.2:c.12151G>C	XP_016865460.1:p.Asp4051His
XM_017009972.1:c.5269G>C	XP_016865461.1:p.Asp1757His
XM_017009973.1:c.5248G>C	XP_016865462.1:p.Asp1750His
NR_003149.2:n.12146G>C