Canonical Allele Identifier: CA2578360254
Gene: ADGRV1 HGNC NCBI

Linked Data

gnomAD v4: 5-90823645-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90823645T>C , CM000667.2:g.90823645T>C GRCh38
NC_000005.9:g.90119462T>C , CM000667.1:g.90119462T>C GRCh37
NC_000005.8:g.90155218T>C NCBI36
NG_007083.1:g.269846T>C
NG_007083.2:g.299302T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.16368+49T>C MANE Select ENSP00000384582.2:n.16368+49T>C
ENST00000425867.3:c.5322+49T>C ENSP00000392618.3:n.5322+49T>C
ENST00000638510.1:n.3635+49T>C
ENST00000639431.1:c.265+147436T>C ENSP00000491057.1:n.265+147436T>C
ENST00000640061.1:n.128+1463T>C
ENST00000640407.1:c.2778+49T>C ENSP00000491425.1:n.2778+49T>C
ENST00000405460.6:c.16368+49T>C ENSP00000384582.2:n.16368+49T>C
ENST00000425867.2:c.3351+49T>C ENSP00000392618.2:n.3351+49T>C
NM_032119.3:c.16368+49T>C NP_115495.3:n.16368+49T>C
NR_003149.1:n.16381+49T>C
XM_011543675.1:c.16365+49T>C XP_011541977.1:n.16365+49T>C
XM_011543676.1:c.16287+49T>C XP_011541978.1:n.16287+49T>C
XM_011543677.1:c.13671+49T>C XP_011541979.1:n.13671+49T>C
NM_032119.4:c.16368+49T>C MANE Select NP_115495.3:n.16368+49T>C
XM_017009963.2:c.16389+49T>C XP_016865452.1:n.16389+49T>C
XM_017009964.2:c.16386+49T>C XP_016865453.1:n.16386+49T>C
XM_017009965.1:c.16386+49T>C XP_016865454.1:n.16386+49T>C
XM_017009966.2:c.16308+49T>C XP_016865455.1:n.16308+49T>C
XM_017009967.1:c.16293+49T>C XP_016865456.1:n.16293+49T>C
XM_017009968.2:c.16209+49T>C XP_016865457.1:n.16209+49T>C
XM_017009969.2:c.16389+49T>C XP_016865458.1:n.16389+49T>C
XM_017009972.1:c.9507+49T>C XP_016865461.1:n.9507+49T>C
XM_017009973.1:c.9486+49T>C XP_016865462.1:n.9486+49T>C
NR_003149.2:n.16384+49T>C