Canonical Allele Identifier: CA386948534

Gene: P2RX4

Linked Data

• dbSNP Id: rs1593211342
• gnomAD v4: 12-121222154-A-C
• MyVariant Identifiers: chr12:g.121659957A>C (hg19) ; chr12:g.121222154A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121222154A>C , CM000674.2:g.121222154A>C	GRCh38
NC_000012.11:g.121659957A>C , CM000674.1:g.121659957A>C	GRCh37
NC_000012.10:g.120144340A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000337233.9:c.415A>C MANE Select	ENSP00000336607.4:p.Thr139Pro
ENST00000314442.7:n.4549A>C
ENST00000337233.8:c.415A>C	ENSP00000336607.4:p.Thr139Pro
ENST00000359949.11:c.463A>C	ENSP00000353032.7:p.Thr155Pro
ENST00000499638.6:n.451A>C
ENST00000538417.2:c.345A>C
ENST00000538701.5:c.135-6379A>C	ENSP00000444033.1:n.135-6379A>C
ENST00000540930.5:n.451A>C
ENST00000541187.5:n.261A>C
ENST00000542067.5:c.415A>C	ENSP00000438329.1:p.Thr139Pro
ENST00000543171.5:c.415A>C	ENSP00000438131.2:p.Thr139Pro
ENST00000543318.5:c.415A>C	ENSP00000444274.1:p.Thr139Pro
ENST00000543430.5:n.463A>C
ENST00000543984.5:c.*108A>C	ENSP00000439386.1:n.*108A>C
NM_001256796.1:c.463A>C	NP_001243725.1:p.Thr155Pro
NM_001261397.1:c.415A>C	NP_001248326.1:p.Thr139Pro
NM_001261398.1:c.415A>C	NP_001248327.1:p.Thr139Pro
NM_002560.2:c.415A>C	NP_002551.2:p.Thr139Pro
NR_046372.1:n.719A>C
NR_046373.1:n.571A>C
XM_011538416.1:c.135-6379A>C	XP_011536718.1:n.135-6379A>C
XM_011538417.1:c.463A>C	XP_011536719.1:p.Thr155Pro
XR_944559.1:n.523A>C
XM_011538416.2:c.135-6379A>C	XP_011536718.1:n.135-6379A>C
XR_001748726.2:n.469A>C
XR_001748727.1:n.532A>C
XR_001748728.1:n.532A>C
XR_001748729.2:n.469A>C
XR_944559.2:n.522A>C
NM_001256796.2:c.463A>C	NP_001243725.1:p.Thr155Pro
NM_001261397.2:c.415A>C	NP_001248326.1:p.Thr139Pro
NM_001261398.2:c.415A>C	NP_001248327.1:p.Thr139Pro
NM_002560.3:c.415A>C MANE Select	NP_002551.2:p.Thr139Pro
NR_046372.2:n.451A>C
NR_046373.2:n.303A>C