Canonical Allele Identifier: CA436502912
Gene: P2RY1 HGNC NCBI
MyVariant.info:
GRCh37 chr3:g.152553628C>A
gnomAD v4:
chr3-152835839-C-A
Joint Max Group AF 0.0000122 (NFE)
Exomes Max Group AF 0.00001295 (NFE)
dbSNP:
1065776
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.152835839C>A , CM000665.2:g.152835839C>A GRCh38
NC_000003.11:g.152553628C>A , CM000665.1:g.152553628C>A GRCh37
NC_000003.10:g.154036318C>A NCBI36
NG_032896.2:g.5893C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305097.6:c.57C>A MANE Select ENSP00000304767.3:p.Ala19=
ENST00000305097.5:c.57C>A ENSP00000304767.3:p.Ala19=
NM_002563.3:c.57C>A NP_002554.1:p.Ala19=
NM_002563.4:c.57C>A NP_002554.1:p.Ala19=
NM_002563.5:c.57C>A MANE Select NP_002554.1:p.Ala19=
Search 100 bp 5'
Search 100 bp 3'