Linked Data
dbSNP Id:
rs10748643
gnomAD v2:
10-97516764-A-G
gnomAD v3:
10-95757007-A-G
gnomAD v4:
10-95757007-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95757007A>G , CM000672.2:g.95757007A>G | GRCh38 |
| NC_000010.10:g.97516764A>G , CM000672.1:g.97516764A>G | GRCh37 |
| NC_000010.9:g.97506754A>G | NCBI36 |
| NG_042803.1:g.50229A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371205.5:c.16+752A>G (ENTPD1) MANE Select | ENSP00000360248.4:n.16+752A>G | |
| ENST00000639992.1:c.16+752A>G (ENTPD1) | ENSP00000492183.1:n.16+752A>G | |
| ENST00000371205.4:c.16+752A>G (ENTPD1) | ENSP00000360248.4:n.16+752A>G | |
| ENST00000371207.8:c.52+1241A>G (ENTPD1) | ENSP00000360250.3:n.52+1241A>G | |
| ENST00000453258.6:c.37+45014A>G (ENTPD1) | ENSP00000390955.2:n.37+45014A>G | |
| ENST00000483213.6:c.-181+752A>G (ENTPD1) | ENSP00000489333.1:n.-181+752A>G | |
| ENST00000543964.6:c.-181+1241A>G (ENTPD1) | ENSP00000442968.1:n.-181+1241A>G | |
| ENST00000635076.1:c.16+752A>G (ENTPD1) | ENSP00000489250.1:n.16+752A>G | |
| ENST00000635677.1:n.20+1241A>G (ENTPD1) | ||
| NM_001098175.1:c.37+45014A>G (ENTPD1) | NP_001091645.1:n.37+45014A>G | |
| NM_001164178.1:c.52+1241A>G (ENTPD1) | NP_001157650.1:n.52+1241A>G | |
| NM_001164179.1:c.16+752A>G (ENTPD1) | NP_001157651.1:n.16+752A>G | |
| NM_001164181.1:c.-181+1241A>G (ENTPD1) | NP_001157653.1:n.-181+1241A>G | |
| NM_001164182.1:c.-248+752A>G (ENTPD1) | NP_001157654.1:n.-248+752A>G | |
| NM_001164183.1:c.-130+752A>G (ENTPD1) | NP_001157655.1:n.-130+752A>G | |
| NM_001312654.1:c.-355+1241A>G (ENTPD1) | NP_001299583.1:n.-355+1241A>G | |
| NM_001776.5:c.16+752A>G (ENTPD1) | NP_001767.3:n.16+752A>G | |
| NR_038444.1:n.754-293T>C (ENTPD1-AS1) | ||
| XM_011540370.1:c.-181+752A>G (ENTPD1) | XP_011538672.1:n.-181+752A>G | |
| XM_011540371.1:c.37+45014A>G (ENTPD1) | XP_011538673.1:n.37+45014A>G | |
| XM_011540372.1:c.-181+752A>G (ENTPD1) | XP_011538674.1:n.-181+752A>G | |
| XM_011540373.1:c.-181+752A>G (ENTPD1) | XP_011538675.1:n.-181+752A>G | |
| XM_011540374.1:c.-181+752A>G (ENTPD1) | XP_011538676.1:n.-181+752A>G | |
| XM_011540375.1:c.-181+752A>G (ENTPD1) | XP_011538677.1:n.-181+752A>G | |
| XM_011540376.1:c.-181+752A>G (ENTPD1) | XP_011538678.1:n.-181+752A>G | |
| XM_011540377.1:c.-309+14800A>G (ENTPD1) | XP_011538679.1:n.-309+14800A>G | |
| NM_001320916.1:c.52+1241A>G (ENTPD1) | NP_001307845.1:n.52+1241A>G | |
| XM_011540370.2:c.201+752A>G (ENTPD1) | XP_011538672.2:n.201+752A>G | |
| XM_011540371.2:c.37+45014A>G (ENTPD1) | XP_011538673.1:n.37+45014A>G | |
| XM_011540372.2:c.201+752A>G (ENTPD1) | XP_011538674.2:n.201+752A>G | |
| XM_011540373.2:c.201+752A>G (ENTPD1) | XP_011538675.2:n.201+752A>G | |
| XM_011540374.3:c.201+752A>G (ENTPD1) | XP_011538676.2:n.201+752A>G | |
| XM_011540376.2:c.201+752A>G (ENTPD1) | XP_011538678.2:n.201+752A>G | |
| XM_011540377.2:c.-309+14800A>G (ENTPD1) | XP_011538679.1:n.-309+14800A>G | |
| XM_017016958.2:c.16+752A>G (ENTPD1) | XP_016872447.1:n.16+752A>G | |
| XM_017016959.1:c.-120+752A>G (ENTPD1) | XP_016872448.1:n.-120+752A>G | |
| XM_017016960.1:c.-181+1241A>G (ENTPD1) | XP_016872449.1:n.-181+1241A>G | |
| XM_017016961.1:c.-248+1241A>G (ENTPD1) | XP_016872450.1:n.-248+1241A>G | |
| XM_017016962.1:c.201+752A>G (ENTPD1) | XP_016872451.1:n.201+752A>G | |
| XM_017016963.1:c.52+1241A>G (ENTPD1) | XP_016872452.1:n.52+1241A>G | |
| XM_017016964.2:c.16+752A>G (ENTPD1) | XP_016872453.1:n.16+752A>G | |
| NM_001776.6:c.16+752A>G (ENTPD1) MANE Select | NP_001767.3:n.16+752A>G | |
| NM_001098175.2:c.37+45014A>G (ENTPD1) | NP_001091645.1:n.37+45014A>G | |
| NM_001164179.2:c.16+752A>G (ENTPD1) | NP_001157651.1:n.16+752A>G | |
| NM_001164182.2:c.-248+752A>G (ENTPD1) | NP_001157654.1:n.-248+752A>G | |
| NM_001164183.2:c.-130+752A>G (ENTPD1) | NP_001157655.1:n.-130+752A>G |