Canonical Allele Identifier: CA360425462

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90823435-G-C
• MyVariant Identifiers: chr5:g.90119252G>C (hg19) ; chr5:g.90823435G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90823435G>C , CM000667.2:g.90823435G>C	GRCh38
NC_000005.9:g.90119252G>C , CM000667.1:g.90119252G>C	GRCh37
NC_000005.8:g.90155008G>C	NCBI36
NG_007083.1:g.269636G>C
NG_007083.2:g.299092G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16207G>C MANE Select	ENSP00000384582.2:p.Asp5403His
ENST00000425867.3:c.5161G>C	ENSP00000392618.3:p.Asp1721His
ENST00000638510.1:n.3474G>C
ENST00000639431.1:c.265+147226G>C	ENSP00000491057.1:n.265+147226G>C
ENST00000640061.1:n.128+1253G>C
ENST00000640407.1:c.2617G>C	ENSP00000491425.1:p.Asp873His
ENST00000405460.6:c.16207G>C	ENSP00000384582.2:p.Asp5403His
ENST00000425867.2:c.3190G>C	ENSP00000392618.2:p.Asp1064His
NM_032119.3:c.16207G>C	NP_115495.3:p.Asp5403His
NR_003149.1:n.16220G>C
XM_011543675.1:c.16204G>C	XP_011541977.1:p.Asp5402His
XM_011543676.1:c.16126G>C	XP_011541978.1:p.Asp5376His
XM_011543677.1:c.13510G>C	XP_011541979.1:p.Asp4504His
NM_032119.4:c.16207G>C MANE Select	NP_115495.3:p.Asp5403His
XM_017009963.2:c.16228G>C	XP_016865452.1:p.Asp5410His
XM_017009964.2:c.16225G>C	XP_016865453.1:p.Asp5409His
XM_017009965.1:c.16225G>C	XP_016865454.1:p.Asp5409His
XM_017009966.2:c.16147G>C	XP_016865455.1:p.Asp5383His
XM_017009967.1:c.16132G>C	XP_016865456.1:p.Asp5378His
XM_017009968.2:c.16048G>C	XP_016865457.1:p.Asp5350His
XM_017009969.2:c.16228G>C	XP_016865458.1:p.Asp5410His
XM_017009972.1:c.9346G>C	XP_016865461.1:p.Asp3116His
XM_017009973.1:c.9325G>C	XP_016865462.1:p.Asp3109His
NR_003149.2:n.16223G>C