Canonical Allele Identifier: CA624585197
Gene: P2RX1 HGNC NCBI

Linked Data

dbSNP Id: rs1176604125
gnomAD v2: 17-3817556-C-T
gnomAD v3: 17-3914262-C-T
gnomAD v4: 17-3914262-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3914262C>T , CM000679.2:g.3914262C>T GRCh38
NC_000017.10:g.3817556C>T , CM000679.1:g.3817556C>T GRCh37
NC_000017.9:g.3764305C>T NCBI36
NG_012109.1:g.7405G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000225538.4:c.137+1827G>A MANE Select ENSP00000225538.3:n.137+1827G>A
ENST00000225538.3:c.137+1827G>A ENSP00000225538.3:n.137+1827G>A
ENST00000571637.1:c.*596+1084G>A ENSP00000460449.1:n.*596+1084G>A
ENST00000572418.1:n.364+1827G>A
NM_002558.3:c.137+1827G>A NP_002549.1:n.137+1827G>A
XM_006721529.1:c.137+1827G>A XP_006721592.1:n.137+1827G>A
XM_011523895.1:c.173+1124G>A XP_011522197.1:n.173+1124G>A
XM_011523896.1:c.173+1124G>A XP_011522198.1:n.173+1124G>A
XM_011523897.1:c.137+1827G>A XP_011522199.1:n.137+1827G>A
XM_011523898.1:c.173+1124G>A XP_011522200.1:n.173+1124G>A
XM_011523899.1:c.173+1124G>A XP_011522201.1:n.173+1124G>A
XM_011523900.1:c.173+1124G>A XP_011522202.1:n.173+1124G>A
XR_934028.1:n.1082+1124G>A
XR_934029.1:n.1082+1124G>A
XR_934030.1:n.1082+1124G>A
XM_006721529.2:c.137+1827G>A XP_006721592.1:n.137+1827G>A
XM_011523896.3:c.173+1124G>A XP_011522198.1:n.173+1124G>A
XM_011523897.2:c.137+1827G>A XP_011522199.1:n.137+1827G>A
XM_011523898.3:c.173+1124G>A XP_011522200.1:n.173+1124G>A
XM_011523899.3:c.173+1124G>A XP_011522201.1:n.173+1124G>A
XM_011523900.3:c.173+1124G>A XP_011522202.1:n.173+1124G>A
XR_934029.3:n.1116+1124G>A
XR_934030.3:n.1116+1124G>A
NM_002558.4:c.137+1827G>A MANE Select NP_002549.1:n.137+1827G>A