Canonical Allele Identifier: CA482157153

Gene: P2RX4

Linked Data

• gnomAD v4: 12-121221945-G-T
• MyVariant Identifiers: chr12:g.121659748G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121221945G>T , CM000674.2:g.121221945G>T	GRCh38
NC_000012.11:g.121659748G>T , CM000674.1:g.121659748G>T	GRCh37
NC_000012.10:g.120144131G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337233.9:c.315G>T MANE Select	ENSP00000336607.4:p.Val105=
ENST00000314442.7:n.4449G>T
ENST00000337233.8:c.315G>T	ENSP00000336607.4:p.Val105=
ENST00000359949.11:c.363G>T	ENSP00000353032.7:p.Val121=
ENST00000499638.6:n.351G>T
ENST00000538417.2:c.245G>T
ENST00000538701.5:c.135-6588G>T	ENSP00000444033.1:n.135-6588G>T
ENST00000540930.5:n.351G>T
ENST00000541187.5:n.161G>T
ENST00000542067.5:c.315G>T	ENSP00000438329.1:p.Val105=
ENST00000543171.5:c.315G>T	ENSP00000438131.2:p.Val105=
ENST00000543318.5:c.315G>T	ENSP00000444274.1:p.Val105=
ENST00000543430.5:n.363G>T
ENST00000543984.5:c.*8G>T	ENSP00000439386.1:n.*8G>T
NM_001256796.1:c.363G>T	NP_001243725.1:p.Val121=
NM_001261397.1:c.315G>T	NP_001248326.1:p.Val105=
NM_001261398.1:c.315G>T	NP_001248327.1:p.Val105=
NM_002560.2:c.315G>T	NP_002551.2:p.Val105=
NR_046372.1:n.619G>T
NR_046373.1:n.471G>T
XM_011538416.1:c.135-6588G>T	XP_011536718.1:n.135-6588G>T
XM_011538417.1:c.363G>T	XP_011536719.1:p.Val121=
XR_944559.1:n.423G>T
XM_011538416.2:c.135-6588G>T	XP_011536718.1:n.135-6588G>T
XR_001748726.2:n.369G>T
XR_001748727.1:n.432G>T
XR_001748728.1:n.432G>T
XR_001748729.2:n.369G>T
XR_944559.2:n.422G>T
NM_001256796.2:c.363G>T	NP_001243725.1:p.Val121=
NM_001261397.2:c.315G>T	NP_001248326.1:p.Val105=
NM_001261398.2:c.315G>T	NP_001248327.1:p.Val105=
NM_002560.3:c.315G>T MANE Select	NP_002551.2:p.Val105=
NR_046372.2:n.351G>T
NR_046373.2:n.203G>T