Canonical Allele Identifier: CA360403410

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90725656-G-T
• MyVariant Identifiers: chr5:g.90021473G>T (hg19) ; chr5:g.90725656G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90725656G>T , CM000667.2:g.90725656G>T	GRCh38
NC_000005.9:g.90021473G>T , CM000667.1:g.90021473G>T	GRCh37
NC_000005.8:g.90057229G>T	NCBI36
NG_007083.1:g.171857G>T
NG_007083.2:g.201313G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10161G>T MANE Select	ENSP00000384582.2:p.Gln3387His
ENST00000639431.1:c.265+49447G>T	ENSP00000491057.1:n.265+49447G>T
ENST00000640374.1:n.3305G>T
ENST00000640464.1:n.580G>T
ENST00000405460.6:c.10161G>T	ENSP00000384582.2:p.Gln3387His
ENST00000509621.1:c.2858G>T
NM_032119.3:c.10161G>T	NP_115495.3:p.Gln3387His
NR_003149.1:n.10174G>T
XM_011543675.1:c.10158G>T	XP_011541977.1:p.Gln3386His
XM_011543676.1:c.10080G>T	XP_011541978.1:p.Gln3360His
XM_011543677.1:c.7464G>T	XP_011541979.1:p.Gln2488His
XM_011543678.1:c.10161G>T	XP_011541980.1:p.Gln3387His
XM_011543679.1:c.10161G>T	XP_011541981.1:p.Gln3387His
XR_948560.1:n.272-9847C>A
NM_032119.4:c.10161G>T MANE Select	NP_115495.3:p.Gln3387His
XM_017009963.2:c.10182G>T	XP_016865452.1:p.Gln3394His
XM_017009964.2:c.10179G>T	XP_016865453.1:p.Gln3393His
XM_017009965.1:c.10179G>T	XP_016865454.1:p.Gln3393His
XM_017009966.2:c.10101G>T	XP_016865455.1:p.Gln3367His
XM_017009967.1:c.10086G>T	XP_016865456.1:p.Gln3362His
XM_017009968.2:c.10182G>T	XP_016865457.1:p.Gln3394His
XM_017009969.2:c.10182G>T	XP_016865458.1:p.Gln3394His
XM_017009970.2:c.10182G>T	XP_016865459.1:p.Gln3394His
XM_017009971.2:c.10182G>T	XP_016865460.1:p.Gln3394His
XM_017009972.1:c.3300G>T	XP_016865461.1:p.Gln1100His
XM_017009973.1:c.3279G>T	XP_016865462.1:p.Gln1093His
XM_017009974.2:c.10182G>T	XP_016865463.1:p.Gln3394His
XR_001742802.1:n.2523-9847C>A
NR_003149.2:n.10177G>T