Canonical Allele Identifier: CA360365568
Gene: ADGRV1 HGNC NCBI

Linked Data

dbSNP Id: rs1764885634
gnomAD v3: 5-90627250-A-C
gnomAD v4: 5-90627250-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90627250A>C , CM000667.2:g.90627250A>C GRCh38
NC_000005.9:g.89923067A>C , CM000667.1:g.89923067A>C GRCh37
NC_000005.8:g.89958823A>C NCBI36
NG_007083.1:g.73451A>C
NG_007083.2:g.102907A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.712A>C MANE Select ENSP00000384582.2:p.Ser238Arg
ENST00000640083.1:n.417A>C
ENST00000640109.1:n.808A>C
ENST00000640281.1:n.771A>C
ENST00000405460.6:c.712A>C ENSP00000384582.2:p.Ser238Arg
NM_032119.3:c.712A>C NP_115495.3:p.Ser238Arg
NR_003149.1:n.808A>C
XM_011543675.1:c.712A>C XP_011541977.1:p.Ser238Arg
XM_011543676.1:c.712A>C XP_011541978.1:p.Ser238Arg
XM_011543678.1:c.712A>C XP_011541980.1:p.Ser238Arg
XM_011543679.1:c.712A>C XP_011541981.1:p.Ser238Arg
NM_032119.4:c.712A>C MANE Select NP_115495.3:p.Ser238Arg
XM_017009963.2:c.712A>C XP_016865452.1:p.Ser238Arg
XM_017009964.2:c.712A>C XP_016865453.1:p.Ser238Arg
XM_017009965.1:c.709A>C XP_016865454.1:p.Ser237Arg
XM_017009966.2:c.712A>C XP_016865455.1:p.Ser238Arg
XM_017009967.1:c.616A>C XP_016865456.1:p.Ser206Arg
XM_017009968.2:c.712A>C XP_016865457.1:p.Ser238Arg
XM_017009969.2:c.712A>C XP_016865458.1:p.Ser238Arg
XM_017009970.2:c.712A>C XP_016865459.1:p.Ser238Arg
XM_017009971.2:c.712A>C XP_016865460.1:p.Ser238Arg
XM_017009974.2:c.712A>C XP_016865463.1:p.Ser238Arg
NR_003149.2:n.811A>C