gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29243281 (MID)
Genomes Max Group AF
0.29135846 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.15054789C>A , CM000678.2:g.15054789C>A | GRCh38 |
| NC_000016.9:g.15148646C>A , CM000678.1:g.15148646C>A | GRCh37 |
| NC_000016.8:g.15056147C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287706.8:c.81+1102G>T (NTAN1) MANE Select | ENSP00000287706.3:n.81+1102G>T | |
| ENST00000287706.7:c.81+1102G>T (NTAN1) | ENSP00000287706.3:n.81+1102G>T | |
| ENST00000535621.6:c.1399+24733C>A (PDXDC1) | ENSP00000437835.2:n.1399+24733C>A | |
| ENST00000563940.1:c.27+1102G>T (NTAN1) | ENSP00000456142.1:n.27+1102G>T | |
| ENST00000565187.5:c.81+1102G>T (NTAN1) | ENSP00000457467.1:n.81+1102G>T | |
| ENST00000566419.1:c.81+1102G>T (NTAN1) | ENSP00000454883.1:n.81+1102G>T | |
| ENST00000567030.5:n.53+1102G>T (NTAN1) | ||
| ENST00000567420.1:n.47+952G>T (NTAN1) | ||
| ENST00000568320.5:c.-66+1102G>T (NTAN1) | ENSP00000455396.1:n.-66+1102G>T | |
| ENST00000622833.4:c.-66+1102G>T (NTAN1) | ENSP00000483643.1:n.-66+1102G>T | |
| ENST00000624579.3:c.-132+1102G>T (NTAN1) | ENSP00000485340.1:n.-132+1102G>T | |
| NM_001270766.1:c.-132+1102G>T (NTAN1) | NP_001257695.1:n.-132+1102G>T | |
| NM_001270767.1:c.-66+1102G>T (NTAN1) | NP_001257696.1:n.-66+1102G>T | |
| NM_001285449.1:c.1399+24733C>A (PDXDC1) | NP_001272378.1:n.1399+24733C>A | |
| NM_173474.3:c.81+1102G>T (NTAN1) | NP_775745.1:n.81+1102G>T | |
| NM_001324020.1:c.1396+24733C>A (PDXDC1) | NP_001310949.1:n.1396+24733C>A | |
| NM_001324021.1:c.1318+24733C>A (PDXDC1) | NP_001310950.1:n.1318+24733C>A | |
| XM_017023065.1:c.1354+24733C>A (PDXDC1) | XP_016878554.1:n.1354+24733C>A | |
| XM_024450194.1:c.1354+24733C>A (PDXDC1) | XP_024305962.1:n.1354+24733C>A | |
| XM_024450195.1:c.1453+24733C>A (PDXDC1) | XP_024305963.1:n.1453+24733C>A | |
| XM_024450196.1:c.1426+24733C>A (PDXDC1) | XP_024305964.1:n.1426+24733C>A | |
| XM_024450197.1:c.1273+24733C>A (PDXDC1) | XP_024305965.1:n.1273+24733C>A | |
| NM_173474.4:c.81+1102G>T (NTAN1) MANE Select | NP_775745.1:n.81+1102G>T | |
| NM_001270766.2:c.-132+1102G>T (NTAN1) | NP_001257695.1:n.-132+1102G>T | |
| NM_001270767.2:c.-66+1102G>T (NTAN1) | NP_001257696.1:n.-66+1102G>T | |
| NM_001285449.2:c.1399+24733C>A (PDXDC1) | NP_001272378.1:n.1399+24733C>A | |
| NM_001324020.2:c.1396+24733C>A (PDXDC1) | NP_001310949.1:n.1396+24733C>A | |
| NM_001324021.2:c.1318+24733C>A (PDXDC1) | NP_001310950.1:n.1318+24733C>A |