Canonical Allele Identifier: CA482161170

Gene: P2RX4

Linked Data

• gnomAD v4: 12-121232480-C-T
• MyVariant Identifiers: chr12:g.121670283C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121232480C>T , CM000674.2:g.121232480C>T	GRCh38
NC_000012.11:g.121670283C>T , CM000674.1:g.121670283C>T	GRCh37
NC_000012.10:g.120154666C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000337233.9:c.951C>T MANE Select	ENSP00000336607.4:p.Ile317=
ENST00000337233.8:c.951C>T	ENSP00000336607.4:p.Ile317=
ENST00000359949.11:c.999C>T	ENSP00000353032.7:p.Ile333=
ENST00000499638.6:n.1944C>T
ENST00000538417.2:c.838C>T
ENST00000541187.5:n.796C>T
ENST00000542067.5:c.870C>T	ENSP00000438329.1:p.Ile290=
ENST00000543171.5:c.951C>T	ENSP00000438131.2:p.Ile317=
ENST00000543318.5:c.*542C>T	ENSP00000444274.1:n.*542C>T
ENST00000543430.5:n.902C>T
ENST00000543984.5:c.*644C>T	ENSP00000439386.1:n.*644C>T
NM_001256796.1:c.999C>T	NP_001243725.1:p.Ile333=
NM_001261397.1:c.870C>T	NP_001248326.1:p.Ile290=
NM_001261398.1:c.951C>T	NP_001248327.1:p.Ile317=
NM_002560.2:c.951C>T	NP_002551.2:p.Ile317=
NR_046372.1:n.1293C>T
NR_046373.1:n.1107C>T
XM_011538416.1:c.561C>T	XP_011536718.1:p.Ile187=
XR_944559.1:n.988C>T
XM_011538416.2:c.561C>T	XP_011536718.1:p.Ile187=
XR_001748726.2:n.934C>T
XR_001748727.1:n.1083C>T
XR_001748728.1:n.1012C>T
XR_001748729.2:n.1020C>T
XR_944559.2:n.987C>T
NM_001256796.2:c.999C>T	NP_001243725.1:p.Ile333=
NM_001261397.2:c.870C>T	NP_001248326.1:p.Ile290=
NM_001261398.2:c.951C>T	NP_001248327.1:p.Ile317=
NM_002560.3:c.951C>T MANE Select	NP_002551.2:p.Ile317=
NR_046372.2:n.1025C>T
NR_046373.2:n.839C>T