Canonical Allele Identifier: CA360396124

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90712293-C-A
• MyVariant Identifiers: chr5:g.90008110C>A (hg19) ; chr5:g.90712293C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90712293C>A , CM000667.2:g.90712293C>A	GRCh38
NC_000005.9:g.90008110C>A , CM000667.1:g.90008110C>A	GRCh37
NC_000005.8:g.90043866C>A	NCBI36
NG_007083.1:g.158494C>A
NG_007083.2:g.187950C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9049C>A MANE Select	ENSP00000384582.2:p.His3017Asn
ENST00000639431.1:c.265+36084C>A	ENSP00000491057.1:n.265+36084C>A
ENST00000639473.1:n.4508C>A
ENST00000640012.1:c.2856C>A
ENST00000640374.1:n.2193C>A
ENST00000640779.1:c.3778C>A
ENST00000405460.6:c.9049C>A	ENSP00000384582.2:p.His3017Asn
ENST00000509621.1:c.1746C>A
NM_032119.3:c.9049C>A	NP_115495.3:p.His3017Asn
NR_003149.1:n.9062C>A
XM_011543675.1:c.9046C>A	XP_011541977.1:p.His3016Asn
XM_011543676.1:c.8968C>A	XP_011541978.1:p.His2990Asn
XM_011543677.1:c.6352C>A	XP_011541979.1:p.His2118Asn
XM_011543678.1:c.9049C>A	XP_011541980.1:p.His3017Asn
XM_011543679.1:c.9049C>A	XP_011541981.1:p.His3017Asn
NM_032119.4:c.9049C>A MANE Select	NP_115495.3:p.His3017Asn
XM_017009963.2:c.9070C>A	XP_016865452.1:p.His3024Asn
XM_017009964.2:c.9067C>A	XP_016865453.1:p.His3023Asn
XM_017009965.1:c.9067C>A	XP_016865454.1:p.His3023Asn
XM_017009966.2:c.8989C>A	XP_016865455.1:p.His2997Asn
XM_017009967.1:c.8974C>A	XP_016865456.1:p.His2992Asn
XM_017009968.2:c.9070C>A	XP_016865457.1:p.His3024Asn
XM_017009969.2:c.9070C>A	XP_016865458.1:p.His3024Asn
XM_017009970.2:c.9070C>A	XP_016865459.1:p.His3024Asn
XM_017009971.2:c.9070C>A	XP_016865460.1:p.His3024Asn
XM_017009972.1:c.2188C>A	XP_016865461.1:p.His730Asn
XM_017009973.1:c.2167C>A	XP_016865462.1:p.His723Asn
XM_017009974.2:c.9070C>A	XP_016865463.1:p.His3024Asn
NR_003149.2:n.9065C>A