Canonical Allele Identifier: CA360366823
Gene: ADGRV1 HGNC NCBI

Linked Data

gnomAD v4: 5-90755087-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90755087A>C , CM000667.2:g.90755087A>C GRCh38
NC_000005.9:g.90050904A>C , CM000667.1:g.90050904A>C GRCh37
NC_000005.8:g.90086660A>C NCBI36
NG_007083.1:g.201288A>C
NG_007083.2:g.230744A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.11482A>C MANE Select ENSP00000384582.2:p.Asn3828His
ENST00000425867.3:c.613A>C ENSP00000392618.3:p.Asn205His
ENST00000639431.1:c.265+78878A>C ENSP00000491057.1:n.265+78878A>C
ENST00000640374.1:n.4626A>C
ENST00000640464.1:n.1901A>C
ENST00000405460.6:c.11482A>C ENSP00000384582.2:p.Asn3828His
ENST00000509621.1:c.4179A>C
NM_032119.3:c.11482A>C NP_115495.3:p.Asn3828His
NR_003149.1:n.11495A>C
XM_011543675.1:c.11479A>C XP_011541977.1:p.Asn3827His
XM_011543676.1:c.11401A>C XP_011541978.1:p.Asn3801His
XM_011543677.1:c.8785A>C XP_011541979.1:p.Asn2929His
XM_011543678.1:c.11482A>C XP_011541980.1:p.Asn3828His
NM_032119.4:c.11482A>C MANE Select NP_115495.3:p.Asn3828His
XM_017009963.2:c.11503A>C XP_016865452.1:p.Asn3835His
XM_017009964.2:c.11500A>C XP_016865453.1:p.Asn3834His
XM_017009965.1:c.11500A>C XP_016865454.1:p.Asn3834His
XM_017009966.2:c.11422A>C XP_016865455.1:p.Asn3808His
XM_017009967.1:c.11407A>C XP_016865456.1:p.Asn3803His
XM_017009968.2:c.11503A>C XP_016865457.1:p.Asn3835His
XM_017009969.2:c.11503A>C XP_016865458.1:p.Asn3835His
XM_017009970.2:c.11503A>C XP_016865459.1:p.Asn3835His
XM_017009971.2:c.11503A>C XP_016865460.1:p.Asn3835His
XM_017009972.1:c.4621A>C XP_016865461.1:p.Asn1541His
XM_017009973.1:c.4600A>C XP_016865462.1:p.Asn1534His
NR_003149.2:n.11498A>C