Canonical Allele Identifier: CA482157156
Gene: P2RX4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.121659751C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121221948C>T , CM000674.2:g.121221948C>T GRCh38
NC_000012.11:g.121659751C>T , CM000674.1:g.121659751C>T GRCh37
NC_000012.10:g.120144134C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000337233.9:c.318C>T MANE Select ENSP00000336607.4:p.Ile106=
ENST00000314442.7:n.4452C>T
ENST00000337233.8:c.318C>T ENSP00000336607.4:p.Ile106=
ENST00000359949.11:c.366C>T ENSP00000353032.7:p.Ile122=
ENST00000499638.6:n.354C>T
ENST00000538417.2:c.248C>T
ENST00000538701.5:c.135-6585C>T ENSP00000444033.1:n.135-6585C>T
ENST00000540930.5:n.354C>T
ENST00000541187.5:n.164C>T
ENST00000542067.5:c.318C>T ENSP00000438329.1:p.Ile106=
ENST00000543171.5:c.318C>T ENSP00000438131.2:p.Ile106=
ENST00000543318.5:c.318C>T ENSP00000444274.1:p.Ile106=
ENST00000543430.5:n.366C>T
ENST00000543984.5:c.*11C>T ENSP00000439386.1:n.*11C>T
NM_001256796.1:c.366C>T NP_001243725.1:p.Ile122=
NM_001261397.1:c.318C>T NP_001248326.1:p.Ile106=
NM_001261398.1:c.318C>T NP_001248327.1:p.Ile106=
NM_002560.2:c.318C>T NP_002551.2:p.Ile106=
NR_046372.1:n.622C>T
NR_046373.1:n.474C>T
XM_011538416.1:c.135-6585C>T XP_011536718.1:n.135-6585C>T
XM_011538417.1:c.366C>T XP_011536719.1:p.Ile122=
XR_944559.1:n.426C>T
XM_011538416.2:c.135-6585C>T XP_011536718.1:n.135-6585C>T
XR_001748726.2:n.372C>T
XR_001748727.1:n.435C>T
XR_001748728.1:n.435C>T
XR_001748729.2:n.372C>T
XR_944559.2:n.425C>T
NM_001256796.2:c.366C>T NP_001243725.1:p.Ile122=
NM_001261397.2:c.318C>T NP_001248326.1:p.Ile106=
NM_001261398.2:c.318C>T NP_001248327.1:p.Ile106=
NM_002560.3:c.318C>T MANE Select NP_002551.2:p.Ile106=
NR_046372.2:n.354C>T
NR_046373.2:n.206C>T