Canonical Allele Identifier: CA445407271
Gene: ADGRV1 HGNC NCBI

Linked Data

dbSNP Id: rs1315445576
gnomAD v2: 5-89913758-C-T
gnomAD v4: 5-90617941-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90617941C>T , CM000667.2:g.90617941C>T GRCh38
NC_000005.9:g.89913758C>T , CM000667.1:g.89913758C>T GRCh37
NC_000005.8:g.89949514C>T NCBI36
NG_007083.1:g.64142C>T
NG_007083.2:g.93598C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.345C>T MANE Select ENSP00000384582.2:p.His115=
ENST00000638316.1:n.555C>T
ENST00000638638.1:n.752C>T
ENST00000640083.1:n.50C>T
ENST00000640109.1:n.441C>T
ENST00000640281.1:n.404C>T
ENST00000405460.6:c.345C>T ENSP00000384582.2:p.His115=
ENST00000508842.5:c.357C>T ENSP00000425936.1:p.His119=
NM_032119.3:c.345C>T NP_115495.3:p.His115=
NR_003149.1:n.441C>T
XM_011543675.1:c.345C>T XP_011541977.1:p.His115=
XM_011543676.1:c.345C>T XP_011541978.1:p.His115=
XM_011543678.1:c.345C>T XP_011541980.1:p.His115=
XM_011543679.1:c.345C>T XP_011541981.1:p.His115=
NM_032119.4:c.345C>T MANE Select NP_115495.3:p.His115=
XM_017009963.2:c.345C>T XP_016865452.1:p.His115=
XM_017009964.2:c.345C>T XP_016865453.1:p.His115=
XM_017009965.1:c.342C>T XP_016865454.1:p.His114=
XM_017009966.2:c.345C>T XP_016865455.1:p.His115=
XM_017009967.1:c.345C>T XP_016865456.1:p.His115=
XM_017009968.2:c.345C>T XP_016865457.1:p.His115=
XM_017009969.2:c.345C>T XP_016865458.1:p.His115=
XM_017009970.2:c.345C>T XP_016865459.1:p.His115=
XM_017009971.2:c.345C>T XP_016865460.1:p.His115=
XM_017009974.2:c.345C>T XP_016865463.1:p.His115=
NR_003149.2:n.444C>T