Canonical Allele Identifier: CA360386172

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90617953-G-T
• MyVariant Identifiers: chr5:g.89913770G>T (hg19) ; chr5:g.90617953G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90617953G>T , CM000667.2:g.90617953G>T	GRCh38
NC_000005.9:g.89913770G>T , CM000667.1:g.89913770G>T	GRCh37
NC_000005.8:g.89949526G>T	NCBI36
NG_007083.1:g.64154G>T
NG_007083.2:g.93610G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.357G>T MANE Select	ENSP00000384582.2:p.Gln119His
ENST00000638316.1:n.567G>T
ENST00000638638.1:n.764G>T
ENST00000640083.1:n.62G>T
ENST00000640109.1:n.453G>T
ENST00000640281.1:n.416G>T
ENST00000405460.6:c.357G>T	ENSP00000384582.2:p.Gln119His
ENST00000508842.5:c.369G>T	ENSP00000425936.1:p.Gln123His
NM_032119.3:c.357G>T	NP_115495.3:p.Gln119His
NR_003149.1:n.453G>T
XM_011543675.1:c.357G>T	XP_011541977.1:p.Gln119His
XM_011543676.1:c.357G>T	XP_011541978.1:p.Gln119His
XM_011543678.1:c.357G>T	XP_011541980.1:p.Gln119His
XM_011543679.1:c.357G>T	XP_011541981.1:p.Gln119His
NM_032119.4:c.357G>T MANE Select	NP_115495.3:p.Gln119His
XM_017009963.2:c.357G>T	XP_016865452.1:p.Gln119His
XM_017009964.2:c.357G>T	XP_016865453.1:p.Gln119His
XM_017009965.1:c.354G>T	XP_016865454.1:p.Gln118His
XM_017009966.2:c.357G>T	XP_016865455.1:p.Gln119His
XM_017009967.1:c.357G>T	XP_016865456.1:p.Gln119His
XM_017009968.2:c.357G>T	XP_016865457.1:p.Gln119His
XM_017009969.2:c.357G>T	XP_016865458.1:p.Gln119His
XM_017009970.2:c.357G>T	XP_016865459.1:p.Gln119His
XM_017009971.2:c.357G>T	XP_016865460.1:p.Gln119His
XM_017009974.2:c.357G>T	XP_016865463.1:p.Gln119His
NR_003149.2:n.456G>T