Canonical Allele Identifier: CA9530057

Gene: PTGIR

Linked Data

• dbSNP Id: rs4987262
• ExAC: 19:47126849 G / A
• gnomAD v2: 19-47126849-G-A
• gnomAD v3: 19-46623592-G-A
• gnomAD v4: 19-46623592-G-A
• MyVariant Identifiers: chr19:g.47126849G>A (hg19) ; chr19:g.46623592G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46623592G>A , CM000681.2:g.46623592G>A	GRCh38
NC_000019.9:g.47126849G>A , CM000681.1:g.47126849G>A	GRCh37
NC_000019.8:g.51818689G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000291294.7:c.634C>T MANE Select	ENSP00000291294.1:p.Arg212Cys
ENST00000291294.6:c.634C>T	ENSP00000291294.1:p.Arg212Cys
ENST00000594275.1:c.-78-18C>T	ENSP00000469408.1:n.-78-18C>T
ENST00000595460.1:n.1156C>T
ENST00000596260.1:c.634C>T	ENSP00000468970.1:p.Arg212Cys
ENST00000597185.1:c.-195+1361C>T	ENSP00000470566.1:n.-195+1361C>T
ENST00000598865.5:c.-3C>T	ENSP00000470799.1:n.-3C>T
NM_000960.3:c.634C>T	NP_000951.1:p.Arg212Cys
XM_005259093.2:c.634C>T	XP_005259150.1:p.Arg212Cys
XM_005259095.2:c.634C>T	XP_005259152.1:p.Arg212Cys
XR_243945.2:n.768C>T
XR_430206.2:n.768C>T
XR_935844.1:n.768C>T
XM_005259093.3:c.634C>T	XP_005259150.1:p.Arg212Cys
XM_005259095.4:c.634C>T	XP_005259152.1:p.Arg212Cys
XR_243945.3:n.742C>T
XR_430206.3:n.742C>T
XR_935844.2:n.742C>T
NM_000960.4:c.634C>T MANE Select	NP_000951.1:p.Arg212Cys