Canonical Allele Identifier: CA684524332

Gene: P2RX7

Linked Data

• dbSNP Id: rs1329623941
• gnomAD v3: 12-121132947-C-T
• gnomAD v4: 12-121132947-C-T
• MyVariant Identifiers: chr12:g.121570750C>T (hg19) ; chr12:g.121132947C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121132947C>T , CM000674.2:g.121132947C>T	GRCh38
NC_000012.11:g.121570750C>T , CM000674.1:g.121570750C>T	GRCh37
NC_000012.10:g.120055133C>T	NCBI36
NG_011471.2:g.5073C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.-24C>T MANE Select	ENSP00000330696.6:n.-24C>T
ENST00000261826.10:c.-24C>T	ENSP00000261826.6:n.-24C>T
ENST00000328963.9:c.-24C>T	ENSP00000330696.6:n.-24C>T
ENST00000535928.5:c.-24C>T	ENSP00000439961.1:n.-24C>T
ENST00000537312.5:c.-24C>T	ENSP00000438586.1:n.-24C>T
ENST00000539695.5:n.46C>T
ENST00000545434.5:c.-24C>T	ENSP00000445564.1:n.-24C>T
NM_002562.5:c.-24C>T	NP_002553.3:n.-24C>T
NR_033948.1:n.120C>T
NR_033949.1:n.120C>T
NR_033950.1:n.120C>T
NR_033951.1:n.120C>T
NR_033952.1:n.120C>T
NR_033953.1:n.129C>T
NR_033954.1:n.120C>T
NR_033955.1:n.120C>T
NR_033956.1:n.120C>T
XM_011538418.1:c.-24C>T	XP_011536720.1:n.-24C>T
XM_011538419.1:c.-167C>T	XP_011536721.1:n.-167C>T
XM_011538419.3:c.-167C>T	XP_011536721.1:n.-167C>T
XM_017019364.2:c.-537C>T	XP_016874853.1:n.-537C>T
XM_017019365.2:c.-368C>T	XP_016874854.1:n.-368C>T
XM_017019366.2:c.-704C>T	XP_016874855.1:n.-704C>T
XM_017019367.2:c.-535C>T	XP_016874856.1:n.-535C>T
XR_001749352.2:n.187-6106G>A
XR_001749354.2:n.187-6106G>A
NM_002562.6:c.-24C>T MANE Select	NP_002553.3:n.-24C>T
NR_033948.2:n.72C>T
NR_033949.2:n.72C>T
NR_033950.2:n.72C>T
NR_033951.2:n.72C>T
NR_033952.2:n.72C>T
NR_033953.2:n.72C>T
NR_033954.2:n.72C>T
NR_033955.2:n.72C>T
NR_033956.2:n.72C>T