Canonical Allele Identifier: CA386948413

Gene: P2RX4

Linked Data

• dbSNP Id: rs1425448836
• gnomAD v2: 12-121659925-C-T
• gnomAD v4: 12-121222122-C-T
• MyVariant Identifiers: chr12:g.121659925C>T (hg19) ; chr12:g.121222122C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121222122C>T , CM000674.2:g.121222122C>T	GRCh38
NC_000012.11:g.121659925C>T , CM000674.1:g.121659925C>T	GRCh37
NC_000012.10:g.120144308C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337233.9:c.383C>T MANE Select	ENSP00000336607.4:p.Ser128Leu
ENST00000314442.7:n.4517C>T
ENST00000337233.8:c.383C>T	ENSP00000336607.4:p.Ser128Leu
ENST00000359949.11:c.431C>T	ENSP00000353032.7:p.Ser144Leu
ENST00000499638.6:n.419C>T
ENST00000538417.2:c.313C>T
ENST00000538701.5:c.135-6411C>T	ENSP00000444033.1:n.135-6411C>T
ENST00000540930.5:n.419C>T
ENST00000541187.5:n.229C>T
ENST00000542067.5:c.383C>T	ENSP00000438329.1:p.Ser128Leu
ENST00000543171.5:c.383C>T	ENSP00000438131.2:p.Ser128Leu
ENST00000543318.5:c.383C>T	ENSP00000444274.1:p.Ser128Leu
ENST00000543430.5:n.431C>T
ENST00000543984.5:c.*76C>T	ENSP00000439386.1:n.*76C>T
NM_001256796.1:c.431C>T	NP_001243725.1:p.Ser144Leu
NM_001261397.1:c.383C>T	NP_001248326.1:p.Ser128Leu
NM_001261398.1:c.383C>T	NP_001248327.1:p.Ser128Leu
NM_002560.2:c.383C>T	NP_002551.2:p.Ser128Leu
NR_046372.1:n.687C>T
NR_046373.1:n.539C>T
XM_011538416.1:c.135-6411C>T	XP_011536718.1:n.135-6411C>T
XM_011538417.1:c.431C>T	XP_011536719.1:p.Ser144Leu
XR_944559.1:n.491C>T
XM_011538416.2:c.135-6411C>T	XP_011536718.1:n.135-6411C>T
XR_001748726.2:n.437C>T
XR_001748727.1:n.500C>T
XR_001748728.1:n.500C>T
XR_001748729.2:n.437C>T
XR_944559.2:n.490C>T
NM_001256796.2:c.431C>T	NP_001243725.1:p.Ser144Leu
NM_001261397.2:c.383C>T	NP_001248326.1:p.Ser128Leu
NM_001261398.2:c.383C>T	NP_001248327.1:p.Ser128Leu
NM_002560.3:c.383C>T MANE Select	NP_002551.2:p.Ser128Leu
NR_046372.2:n.419C>T
NR_046373.2:n.271C>T