Canonical Allele Identifier: CA3338587

Gene: ADGRV1

Linked Data

• dbSNP Id: rs779442763
• ExAC: 5:89923316 G / C
• gnomAD v2: 5-89923316-G-C
• gnomAD v4: 5-90627499-G-C
• MyVariant Identifiers: chr5:g.89923316G>C (hg19) ; chr5:g.90627499G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90627499G>C , CM000667.2:g.90627499G>C	GRCh38
NC_000005.9:g.89923316G>C , CM000667.1:g.89923316G>C	GRCh37
NC_000005.8:g.89959072G>C	NCBI36
NG_007083.1:g.73700G>C
NG_007083.2:g.103156G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.961G>C MANE Select	ENSP00000384582.2:p.Asp321His
ENST00000640083.1:n.666G>C
ENST00000640109.1:n.1057G>C
ENST00000640281.1:n.1020G>C
ENST00000405460.6:c.961G>C	ENSP00000384582.2:p.Asp321His
NM_032119.3:c.961G>C	NP_115495.3:p.Asp321His
NR_003149.1:n.1057G>C
XM_011543675.1:c.961G>C	XP_011541977.1:p.Asp321His
XM_011543676.1:c.961G>C	XP_011541978.1:p.Asp321His
XM_011543678.1:c.961G>C	XP_011541980.1:p.Asp321His
XM_011543679.1:c.961G>C	XP_011541981.1:p.Asp321His
NM_032119.4:c.961G>C MANE Select	NP_115495.3:p.Asp321His
XM_017009963.2:c.961G>C	XP_016865452.1:p.Asp321His
XM_017009964.2:c.961G>C	XP_016865453.1:p.Asp321His
XM_017009965.1:c.958G>C	XP_016865454.1:p.Asp320His
XM_017009966.2:c.961G>C	XP_016865455.1:p.Asp321His
XM_017009967.1:c.865G>C	XP_016865456.1:p.Asp289His
XM_017009968.2:c.961G>C	XP_016865457.1:p.Asp321His
XM_017009969.2:c.961G>C	XP_016865458.1:p.Asp321His
XM_017009970.2:c.961G>C	XP_016865459.1:p.Asp321His
XM_017009971.2:c.961G>C	XP_016865460.1:p.Asp321His
XM_017009974.2:c.961G>C	XP_016865463.1:p.Asp321His
NR_003149.2:n.1060G>C