Canonical Allele Identifier: CA386948416

Gene: P2RX4

Linked Data

• MyVariant Identifiers: chr12:g.121659927G>C (hg19) ; chr12:g.121222124G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121222124G>C , CM000674.2:g.121222124G>C	GRCh38
NC_000012.11:g.121659927G>C , CM000674.1:g.121659927G>C	GRCh37
NC_000012.10:g.120144310G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337233.9:c.385G>C MANE Select	ENSP00000336607.4:p.Asp129His
ENST00000314442.7:n.4519G>C
ENST00000337233.8:c.385G>C	ENSP00000336607.4:p.Asp129His
ENST00000359949.11:c.433G>C	ENSP00000353032.7:p.Asp145His
ENST00000499638.6:n.421G>C
ENST00000538417.2:c.315G>C
ENST00000538701.5:c.135-6409G>C	ENSP00000444033.1:n.135-6409G>C
ENST00000540930.5:n.421G>C
ENST00000541187.5:n.231G>C
ENST00000542067.5:c.385G>C	ENSP00000438329.1:p.Asp129His
ENST00000543171.5:c.385G>C	ENSP00000438131.2:p.Asp129His
ENST00000543318.5:c.385G>C	ENSP00000444274.1:p.Asp129His
ENST00000543430.5:n.433G>C
ENST00000543984.5:c.*78G>C	ENSP00000439386.1:n.*78G>C
NM_001256796.1:c.433G>C	NP_001243725.1:p.Asp145His
NM_001261397.1:c.385G>C	NP_001248326.1:p.Asp129His
NM_001261398.1:c.385G>C	NP_001248327.1:p.Asp129His
NM_002560.2:c.385G>C	NP_002551.2:p.Asp129His
NR_046372.1:n.689G>C
NR_046373.1:n.541G>C
XM_011538416.1:c.135-6409G>C	XP_011536718.1:n.135-6409G>C
XM_011538417.1:c.433G>C	XP_011536719.1:p.Asp145His
XR_944559.1:n.493G>C
XM_011538416.2:c.135-6409G>C	XP_011536718.1:n.135-6409G>C
XR_001748726.2:n.439G>C
XR_001748727.1:n.502G>C
XR_001748728.1:n.502G>C
XR_001748729.2:n.439G>C
XR_944559.2:n.492G>C
NM_001256796.2:c.433G>C	NP_001243725.1:p.Asp145His
NM_001261397.2:c.385G>C	NP_001248326.1:p.Asp129His
NM_001261398.2:c.385G>C	NP_001248327.1:p.Asp129His
NM_002560.3:c.385G>C MANE Select	NP_002551.2:p.Asp129His
NR_046372.2:n.421G>C
NR_046373.2:n.273G>C