Canonical Allele Identifier: CA360377447

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1561680396
• gnomAD v4: 5-90763347-T-C
• MyVariant Identifiers: chr5:g.90059164T>C (hg19) ; chr5:g.90763347T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763347T>C , CM000667.2:g.90763347T>C	GRCh38
NC_000005.9:g.90059164T>C , CM000667.1:g.90059164T>C	GRCh37
NC_000005.8:g.90094920T>C	NCBI36
NG_007083.1:g.209548T>C
NG_007083.2:g.239004T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12163T>C MANE Select	ENSP00000384582.2:p.Tyr4055His
ENST00000425867.3:c.1117T>C	ENSP00000392618.3:p.Tyr373His
ENST00000639431.1:c.265+87138T>C	ENSP00000491057.1:n.265+87138T>C
ENST00000640464.1:n.2582T>C
ENST00000640729.1:n.740T>C
ENST00000405460.6:c.12163T>C	ENSP00000384582.2:p.Tyr4055His
NM_032119.3:c.12163T>C	NP_115495.3:p.Tyr4055His
NR_003149.1:n.12176T>C
XM_011543675.1:c.12160T>C	XP_011541977.1:p.Tyr4054His
XM_011543676.1:c.12082T>C	XP_011541978.1:p.Tyr4028His
XM_011543677.1:c.9466T>C	XP_011541979.1:p.Tyr3156His
XM_011543678.1:c.12163T>C	XP_011541980.1:p.Tyr4055His
NM_032119.4:c.12163T>C MANE Select	NP_115495.3:p.Tyr4055His
XM_017009963.2:c.12184T>C	XP_016865452.1:p.Tyr4062His
XM_017009964.2:c.12181T>C	XP_016865453.1:p.Tyr4061His
XM_017009965.1:c.12181T>C	XP_016865454.1:p.Tyr4061His
XM_017009966.2:c.12103T>C	XP_016865455.1:p.Tyr4035His
XM_017009967.1:c.12088T>C	XP_016865456.1:p.Tyr4030His
XM_017009968.2:c.12184T>C	XP_016865457.1:p.Tyr4062His
XM_017009969.2:c.12184T>C	XP_016865458.1:p.Tyr4062His
XM_017009970.2:c.12184T>C	XP_016865459.1:p.Tyr4062His
XM_017009971.2:c.12184T>C	XP_016865460.1:p.Tyr4062His
XM_017009972.1:c.5302T>C	XP_016865461.1:p.Tyr1768His
XM_017009973.1:c.5281T>C	XP_016865462.1:p.Tyr1761His
NR_003149.2:n.12179T>C