Canonical Allele Identifier: CA3342540
Community Standard Title: NM_032119.4(ADGRV1):c.18014A>G (p.His6005Arg)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90985384A>G , CM000667.2:g.90985384A>G GRCh38
NC_000005.9:g.90281201A>G , CM000667.1:g.90281201A>G GRCh37
NC_000005.8:g.90316957A>G NCBI36
NG_007083.1:g.431585A>G
NG_007083.2:g.461041A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.18014A>G MANE Select NP_115495.3:p.His6005Arg
ENST00000405460.9:c.18014A>G MANE Select ENSP00000384582.2:p.His6005Arg
NM_032119.3:c.18014A>G NP_115495.3:p.His6005Arg
NR_003149.1:n.18027A>G
NR_003149.2:n.18030A>G
ENST00000405460.6:c.18014A>G ENSP00000384582.2:p.His6005Arg
ENST00000425867.2:c.4997A>G ENSP00000392618.2:p.His1666Arg
ENST00000425867.3:c.6968A>G ENSP00000392618.3:p.His2323Arg
ENST00000638510.1:n.5281A>G
ENST00000638990.1:c.1226A>G
ENST00000639431.1:c.306A>G ENSP00000491057.1:n.306A>G
ENST00000639707.1:c.98A>G ENSP00000492328.1:p.His33Arg
ENST00000639821.1:c.98A>G ENSP00000492216.1:p.His33Arg
ENST00000640369.1:c.98A>G ENSP00000491401.1:p.His33Arg
ENST00000640407.1:c.4463A>G ENSP00000491425.1:n.4463A>G
ENST00000640815.1:c.98A>G ENSP00000491767.1:p.His33Arg
XM_011543675.1:c.18011A>G XP_011541977.1:p.His6004Arg
XM_011543676.1:c.17933A>G XP_011541978.1:p.His5978Arg
XM_011543677.1:c.15317A>G XP_011541979.1:p.His5106Arg
XM_017009963.2:c.18035A>G XP_016865452.1:p.His6012Arg
XM_017009964.2:c.18032A>G XP_016865453.1:p.His6011Arg
XM_017009965.1:c.18032A>G XP_016865454.1:p.His6011Arg
XM_017009966.2:c.17954A>G XP_016865455.1:p.His5985Arg
XM_017009967.1:c.17939A>G XP_016865456.1:p.His5980Arg
XM_017009968.2:c.17855A>G XP_016865457.1:p.His5952Arg
XM_017009969.2:c.18035A>G XP_016865458.1:p.His6012Arg
XM_017009972.1:c.11153A>G XP_016865461.1:p.His3718Arg
XM_017009973.1:c.11132A>G XP_016865462.1:p.His3711Arg