Linked Data
dbSNP Id:
rs4500751
gnomAD v2:
16-15140211-C-T
gnomAD v3:
16-15046354-C-T
gnomAD v4:
16-15046354-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.15046354C>T , CM000678.2:g.15046354C>T | GRCh38 |
| NC_000016.9:g.15140211C>T , CM000678.1:g.15140211C>T | GRCh37 |
| NC_000016.8:g.15047712C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287706.8:c.359+1088G>A (NTAN1) MANE Select | ENSP00000287706.3:n.359+1088G>A | |
| ENST00000287706.7:c.359+1088G>A (NTAN1) | ENSP00000287706.3:n.359+1088G>A | |
| ENST00000535621.6:c.1399+16298C>T (PDXDC1) | ENSP00000437835.2:n.1399+16298C>T | |
| ENST00000563940.1:c.226+1064G>A (NTAN1) | ENSP00000456142.1:n.226+1064G>A | |
| ENST00000565187.5:c.*118+1088G>A (NTAN1) | ENSP00000457467.1:n.*118+1088G>A | |
| ENST00000566419.1:c.278+1088G>A (NTAN1) | ENSP00000454883.1:n.278+1088G>A | |
| ENST00000568320.5:c.44+1088G>A (NTAN1) | ENSP00000455396.1:n.44+1088G>A | |
| ENST00000568738.1:c.53+1088G>A (NTAN1) | ENSP00000454595.1:n.53+1088G>A | |
| ENST00000622833.4:c.44+1088G>A (NTAN1) | ENSP00000483643.1:n.44+1088G>A | |
| ENST00000624579.3:c.44+1088G>A (NTAN1) | ENSP00000485340.1:n.44+1088G>A | |
| NM_001270766.1:c.44+1088G>A (NTAN1) | NP_001257695.1:n.44+1088G>A | |
| NM_001270767.1:c.44+1088G>A (NTAN1) | NP_001257696.1:n.44+1088G>A | |
| NM_001285449.1:c.1399+16298C>T (PDXDC1) | NP_001272378.1:n.1399+16298C>T | |
| NM_173474.3:c.359+1088G>A (NTAN1) | NP_775745.1:n.359+1088G>A | |
| XM_011522355.1:c.110+3G>A (NTAN1) | XP_011520657.1:n.110+3G>A | |
| NM_001324020.1:c.1396+16298C>T (PDXDC1) | NP_001310949.1:n.1396+16298C>T | |
| NM_001324021.1:c.1318+16298C>T (PDXDC1) | NP_001310950.1:n.1318+16298C>T | |
| XM_011522355.2:c.110+3G>A (NTAN1) | XP_011520657.1:n.110+3G>A | |
| XM_017023065.1:c.1354+16298C>T (PDXDC1) | XP_016878554.1:n.1354+16298C>T | |
| XM_024450194.1:c.1354+16298C>T (PDXDC1) | XP_024305962.1:n.1354+16298C>T | |
| XM_024450195.1:c.1453+16298C>T (PDXDC1) | XP_024305963.1:n.1453+16298C>T | |
| XM_024450196.1:c.1426+16298C>T (PDXDC1) | XP_024305964.1:n.1426+16298C>T | |
| XM_024450197.1:c.1273+16298C>T (PDXDC1) | XP_024305965.1:n.1273+16298C>T | |
| NM_173474.4:c.359+1088G>A (NTAN1) MANE Select | NP_775745.1:n.359+1088G>A | |
| NM_001270766.2:c.44+1088G>A (NTAN1) | NP_001257695.1:n.44+1088G>A | |
| NM_001270767.2:c.44+1088G>A (NTAN1) | NP_001257696.1:n.44+1088G>A | |
| NM_001285449.2:c.1399+16298C>T (PDXDC1) | NP_001272378.1:n.1399+16298C>T | |
| NM_001324020.2:c.1396+16298C>T (PDXDC1) | NP_001310949.1:n.1396+16298C>T | |
| NM_001324021.2:c.1318+16298C>T (PDXDC1) | NP_001310950.1:n.1318+16298C>T |