Canonical Allele Identifier: CA386948066

Gene: P2RX4

Linked Data

• MyVariant Identifiers: chr12:g.121659772G>T (hg19) ; chr12:g.121221969G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121221969G>T , CM000674.2:g.121221969G>T	GRCh38
NC_000012.11:g.121659772G>T , CM000674.1:g.121659772G>T	GRCh37
NC_000012.10:g.120144155G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337233.9:c.339G>T MANE Select	ENSP00000336607.4:p.Gln113His
ENST00000314442.7:n.4473G>T
ENST00000337233.8:c.339G>T	ENSP00000336607.4:p.Gln113His
ENST00000359949.11:c.387G>T	ENSP00000353032.7:p.Gln129His
ENST00000499638.6:n.375G>T
ENST00000538417.2:c.269G>T
ENST00000538701.5:c.135-6564G>T	ENSP00000444033.1:n.135-6564G>T
ENST00000540930.5:n.375G>T
ENST00000541187.5:n.185G>T
ENST00000542067.5:c.339G>T	ENSP00000438329.1:p.Gln113His
ENST00000543171.5:c.339G>T	ENSP00000438131.2:p.Gln113His
ENST00000543318.5:c.339G>T	ENSP00000444274.1:p.Gln113His
ENST00000543430.5:n.387G>T
ENST00000543984.5:c.*32G>T	ENSP00000439386.1:n.*32G>T
NM_001256796.1:c.387G>T	NP_001243725.1:p.Gln129His
NM_001261397.1:c.339G>T	NP_001248326.1:p.Gln113His
NM_001261398.1:c.339G>T	NP_001248327.1:p.Gln113His
NM_002560.2:c.339G>T	NP_002551.2:p.Gln113His
NR_046372.1:n.643G>T
NR_046373.1:n.495G>T
XM_011538416.1:c.135-6564G>T	XP_011536718.1:n.135-6564G>T
XM_011538417.1:c.387G>T	XP_011536719.1:p.Gln129His
XR_944559.1:n.447G>T
XM_011538416.2:c.135-6564G>T	XP_011536718.1:n.135-6564G>T
XR_001748726.2:n.393G>T
XR_001748727.1:n.456G>T
XR_001748728.1:n.456G>T
XR_001748729.2:n.393G>T
XR_944559.2:n.446G>T
NM_001256796.2:c.387G>T	NP_001243725.1:p.Gln129His
NM_001261397.2:c.339G>T	NP_001248326.1:p.Gln113His
NM_001261398.2:c.339G>T	NP_001248327.1:p.Gln113His
NM_002560.3:c.339G>T MANE Select	NP_002551.2:p.Gln113His
NR_046372.2:n.375G>T
NR_046373.2:n.227G>T