Canonical Allele Identifier: CA980897803
Gene: P2RX1 HGNC NCBI

Linked Data

dbSNP Id: rs2056413884
gnomAD v3: 17-3914347-G-C
gnomAD v4: 17-3914347-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3914347G>C , CM000679.2:g.3914347G>C GRCh38
NC_000017.10:g.3817641G>C , CM000679.1:g.3817641G>C GRCh37
NC_000017.9:g.3764390G>C NCBI36
NG_012109.1:g.7320C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000225538.4:c.137+1742C>G MANE Select ENSP00000225538.3:n.137+1742C>G
ENST00000225538.3:c.137+1742C>G ENSP00000225538.3:n.137+1742C>G
ENST00000571637.1:c.*596+999C>G ENSP00000460449.1:n.*596+999C>G
ENST00000572418.1:n.364+1742C>G
NM_002558.3:c.137+1742C>G NP_002549.1:n.137+1742C>G
XM_006721529.1:c.137+1742C>G XP_006721592.1:n.137+1742C>G
XM_011523895.1:c.173+1039C>G XP_011522197.1:n.173+1039C>G
XM_011523896.1:c.173+1039C>G XP_011522198.1:n.173+1039C>G
XM_011523897.1:c.137+1742C>G XP_011522199.1:n.137+1742C>G
XM_011523898.1:c.173+1039C>G XP_011522200.1:n.173+1039C>G
XM_011523899.1:c.173+1039C>G XP_011522201.1:n.173+1039C>G
XM_011523900.1:c.173+1039C>G XP_011522202.1:n.173+1039C>G
XR_934028.1:n.1082+1039C>G
XR_934029.1:n.1082+1039C>G
XR_934030.1:n.1082+1039C>G
XM_006721529.2:c.137+1742C>G XP_006721592.1:n.137+1742C>G
XM_011523896.3:c.173+1039C>G XP_011522198.1:n.173+1039C>G
XM_011523897.2:c.137+1742C>G XP_011522199.1:n.137+1742C>G
XM_011523898.3:c.173+1039C>G XP_011522200.1:n.173+1039C>G
XM_011523899.3:c.173+1039C>G XP_011522201.1:n.173+1039C>G
XM_011523900.3:c.173+1039C>G XP_011522202.1:n.173+1039C>G
XR_934029.3:n.1116+1039C>G
XR_934030.3:n.1116+1039C>G
NM_002558.4:c.137+1742C>G MANE Select NP_002549.1:n.137+1742C>G