Canonical Allele Identifier: CA482157200
Gene: P2RX4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.121659911C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121222108C>G , CM000674.2:g.121222108C>G GRCh38
NC_000012.11:g.121659911C>G , CM000674.1:g.121659911C>G GRCh37
NC_000012.10:g.120144294C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000337233.9:c.369C>G MANE Select ENSP00000336607.4:p.Thr123=
ENST00000314442.7:n.4503C>G
ENST00000337233.8:c.369C>G ENSP00000336607.4:p.Thr123=
ENST00000359949.11:c.417C>G ENSP00000353032.7:p.Thr139=
ENST00000499638.6:n.405C>G
ENST00000538417.2:c.299C>G
ENST00000538701.5:c.135-6425C>G ENSP00000444033.1:n.135-6425C>G
ENST00000540930.5:n.405C>G
ENST00000541187.5:n.215C>G
ENST00000542067.5:c.369C>G ENSP00000438329.1:p.Thr123=
ENST00000543171.5:c.369C>G ENSP00000438131.2:p.Thr123=
ENST00000543318.5:c.369C>G ENSP00000444274.1:p.Thr123=
ENST00000543430.5:n.417C>G
ENST00000543984.5:c.*62C>G ENSP00000439386.1:n.*62C>G
NM_001256796.1:c.417C>G NP_001243725.1:p.Thr139=
NM_001261397.1:c.369C>G NP_001248326.1:p.Thr123=
NM_001261398.1:c.369C>G NP_001248327.1:p.Thr123=
NM_002560.2:c.369C>G NP_002551.2:p.Thr123=
NR_046372.1:n.673C>G
NR_046373.1:n.525C>G
XM_011538416.1:c.135-6425C>G XP_011536718.1:n.135-6425C>G
XM_011538417.1:c.417C>G XP_011536719.1:p.Thr139=
XR_944559.1:n.477C>G
XM_011538416.2:c.135-6425C>G XP_011536718.1:n.135-6425C>G
XR_001748726.2:n.423C>G
XR_001748727.1:n.486C>G
XR_001748728.1:n.486C>G
XR_001748729.2:n.423C>G
XR_944559.2:n.476C>G
NM_001256796.2:c.417C>G NP_001243725.1:p.Thr139=
NM_001261397.2:c.369C>G NP_001248326.1:p.Thr123=
NM_001261398.2:c.369C>G NP_001248327.1:p.Thr123=
NM_002560.3:c.369C>G MANE Select NP_002551.2:p.Thr123=
NR_046372.2:n.405C>G
NR_046373.2:n.257C>G