Canonical Allele Identifier: CA360409031

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90745655-G-C
• MyVariant Identifiers: chr5:g.90041472G>C (hg19) ; chr5:g.90745655G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745655G>C , CM000667.2:g.90745655G>C	GRCh38
NC_000005.9:g.90041472G>C , CM000667.1:g.90041472G>C	GRCh37
NC_000005.8:g.90077228G>C	NCBI36
NG_007083.1:g.191856G>C
NG_007083.2:g.221312G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10834G>C MANE Select	ENSP00000384582.2:p.Asp3612His
ENST00000639431.1:c.265+69446G>C	ENSP00000491057.1:n.265+69446G>C
ENST00000640374.1:n.3978G>C
ENST00000640464.1:n.1253G>C
ENST00000405460.6:c.10834G>C	ENSP00000384582.2:p.Asp3612His
ENST00000509621.1:c.3531G>C
NM_032119.3:c.10834G>C	NP_115495.3:p.Asp3612His
NR_003149.1:n.10847G>C
XM_011543675.1:c.10831G>C	XP_011541977.1:p.Asp3611His
XM_011543676.1:c.10753G>C	XP_011541978.1:p.Asp3585His
XM_011543677.1:c.8137G>C	XP_011541979.1:p.Asp2713His
XM_011543678.1:c.10834G>C	XP_011541980.1:p.Asp3612His
XM_011543679.1:c.*56G>C	XP_011541981.1:n.*56G>C
NM_032119.4:c.10834G>C MANE Select	NP_115495.3:p.Asp3612His
XM_017009963.2:c.10855G>C	XP_016865452.1:p.Asp3619His
XM_017009964.2:c.10852G>C	XP_016865453.1:p.Asp3618His
XM_017009965.1:c.10852G>C	XP_016865454.1:p.Asp3618His
XM_017009966.2:c.10774G>C	XP_016865455.1:p.Asp3592His
XM_017009967.1:c.10759G>C	XP_016865456.1:p.Asp3587His
XM_017009968.2:c.10855G>C	XP_016865457.1:p.Asp3619His
XM_017009969.2:c.10855G>C	XP_016865458.1:p.Asp3619His
XM_017009970.2:c.10855G>C	XP_016865459.1:p.Asp3619His
XM_017009971.2:c.10855G>C	XP_016865460.1:p.Asp3619His
XM_017009972.1:c.3973G>C	XP_016865461.1:p.Asp1325His
XM_017009973.1:c.3952G>C	XP_016865462.1:p.Asp1318His
XM_017009974.2:c.*56G>C	XP_016865463.1:n.*56G>C
NR_003149.2:n.10850G>C