Canonical Allele Identifier: CA174386

Gene: ENTPD3 ENTPD3-AS1

Linked Data

• ClinVar Variation Id: 161579
• ClinVar RCV Id: RCV000149114
• dbSNP Id: rs193921050
• COSMIC: COSM1179097
• MyVariant Identifiers: chr3:g.40457545T>A (hg19) ; chr3:g.40416054T>A (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.40416054T>A , CM000665.2:g.40416054T>A	GRCh38
NC_000003.11:g.40457545T>A , CM000665.1:g.40457545T>A	GRCh37
NC_000003.10:g.40432549T>A	NCBI36
NG_047041.1:g.33899T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301825.8:c.812T>A (ENTPD3) MANE Select	ENSP00000301825.3:p.Phe271Tyr
ENST00000647765.1:c.*567T>A (ENTPD3)	ENSP00000497683.1:n.*567T>A
ENST00000301825.7:c.812T>A (ENTPD3)	ENSP00000301825.3:p.Phe271Tyr
ENST00000445129.1:c.812T>A (ENTPD3)	ENSP00000404671.1:p.Phe271Tyr
ENST00000456402.5:c.812T>A (ENTPD3)	ENSP00000401565.1:p.Phe271Tyr
NM_001248.3:c.812T>A (ENTPD3)	NP_001239.2:p.Phe271Tyr
NM_001291960.1:c.812T>A (ENTPD3)	NP_001278889.1:p.Phe271Tyr
NM_001291961.1:c.812T>A (ENTPD3)	NP_001278890.1:p.Phe271Tyr
NR_040100.1:n.266-16426A>T (ENTPD3-AS1)
XM_005265607.3:c.812T>A (ENTPD3)	XP_005265664.1:p.Phe271Tyr
XM_011534266.1:c.812T>A (ENTPD3)	XP_011532568.1:p.Phe271Tyr
XR_245167.1:n.930T>A (ENTPD3)
XR_427297.1:n.930T>A (ENTPD3)
XR_940520.1:n.930T>A (ENTPD3)
XM_011534266.3:c.812T>A (ENTPD3)	XP_011532568.1:p.Phe271Tyr
NM_001248.4:c.812T>A (ENTPD3) MANE Select	NP_001239.2:p.Phe271Tyr
NM_001291960.2:c.812T>A (ENTPD3)	NP_001278889.1:p.Phe271Tyr
NM_001291961.2:c.812T>A (ENTPD3)	NP_001278890.1:p.Phe271Tyr