Canonical Allele Identifier: CA360376308
Gene: ADGRV1 HGNC NCBI

Linked Data

gnomAD v4: 5-90629497-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90629497A>C , CM000667.2:g.90629497A>C GRCh38
NC_000005.9:g.89925314A>C , CM000667.1:g.89925314A>C GRCh37
NC_000005.8:g.89961070A>C NCBI36
NG_007083.1:g.75698A>C
NG_007083.2:g.105154A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.1797A>C MANE Select ENSP00000384582.2:p.Arg599Ser
ENST00000504142.2:n.563A>C
ENST00000640109.1:n.1893A>C
ENST00000405460.6:c.1797A>C ENSP00000384582.2:p.Arg599Ser
ENST00000504142.1:c.562A>C
NM_032119.3:c.1797A>C NP_115495.3:p.Arg599Ser
NR_003149.1:n.1893A>C
XM_011543675.1:c.1797A>C XP_011541977.1:p.Arg599Ser
XM_011543676.1:c.1797A>C XP_011541978.1:p.Arg599Ser
XM_011543678.1:c.1797A>C XP_011541980.1:p.Arg599Ser
XM_011543679.1:c.1797A>C XP_011541981.1:p.Arg599Ser
NM_032119.4:c.1797A>C MANE Select NP_115495.3:p.Arg599Ser
XM_017009963.2:c.1797A>C XP_016865452.1:p.Arg599Ser
XM_017009964.2:c.1797A>C XP_016865453.1:p.Arg599Ser
XM_017009965.1:c.1794A>C XP_016865454.1:p.Arg598Ser
XM_017009966.2:c.1797A>C XP_016865455.1:p.Arg599Ser
XM_017009967.1:c.1701A>C XP_016865456.1:p.Arg567Ser
XM_017009968.2:c.1797A>C XP_016865457.1:p.Arg599Ser
XM_017009969.2:c.1797A>C XP_016865458.1:p.Arg599Ser
XM_017009970.2:c.1797A>C XP_016865459.1:p.Arg599Ser
XM_017009971.2:c.1797A>C XP_016865460.1:p.Arg599Ser
XM_017009974.2:c.1797A>C XP_016865463.1:p.Arg599Ser
NR_003149.2:n.1896A>C