Canonical Allele Identifier: CA386947852

Gene: P2RX4

Linked Data

• MyVariant Identifiers: chr12:g.121659753T>A (hg19) ; chr12:g.121221950T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121221950T>A , CM000674.2:g.121221950T>A	GRCh38
NC_000012.11:g.121659753T>A , CM000674.1:g.121659753T>A	GRCh37
NC_000012.10:g.120144136T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337233.9:c.320T>A MANE Select	ENSP00000336607.4:p.Leu107His
ENST00000314442.7:n.4454T>A
ENST00000337233.8:c.320T>A	ENSP00000336607.4:p.Leu107His
ENST00000359949.11:c.368T>A	ENSP00000353032.7:p.Leu123His
ENST00000499638.6:n.356T>A
ENST00000538417.2:c.250T>A
ENST00000538701.5:c.135-6583T>A	ENSP00000444033.1:n.135-6583T>A
ENST00000540930.5:n.356T>A
ENST00000541187.5:n.166T>A
ENST00000542067.5:c.320T>A	ENSP00000438329.1:p.Leu107His
ENST00000543171.5:c.320T>A	ENSP00000438131.2:p.Leu107His
ENST00000543318.5:c.320T>A	ENSP00000444274.1:p.Leu107His
ENST00000543430.5:n.368T>A
ENST00000543984.5:c.*13T>A	ENSP00000439386.1:n.*13T>A
NM_001256796.1:c.368T>A	NP_001243725.1:p.Leu123His
NM_001261397.1:c.320T>A	NP_001248326.1:p.Leu107His
NM_001261398.1:c.320T>A	NP_001248327.1:p.Leu107His
NM_002560.2:c.320T>A	NP_002551.2:p.Leu107His
NR_046372.1:n.624T>A
NR_046373.1:n.476T>A
XM_011538416.1:c.135-6583T>A	XP_011536718.1:n.135-6583T>A
XM_011538417.1:c.368T>A	XP_011536719.1:p.Leu123His
XR_944559.1:n.428T>A
XM_011538416.2:c.135-6583T>A	XP_011536718.1:n.135-6583T>A
XR_001748726.2:n.374T>A
XR_001748727.1:n.437T>A
XR_001748728.1:n.437T>A
XR_001748729.2:n.374T>A
XR_944559.2:n.427T>A
NM_001256796.2:c.368T>A	NP_001243725.1:p.Leu123His
NM_001261397.2:c.320T>A	NP_001248326.1:p.Leu107His
NM_001261398.2:c.320T>A	NP_001248327.1:p.Leu107His
NM_002560.3:c.320T>A MANE Select	NP_002551.2:p.Leu107His
NR_046372.2:n.356T>A
NR_046373.2:n.208T>A