gnomAD v2:
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101749181G>A , CM000674.2:g.101749181G>A | GRCh38 |
| NC_000012.11:g.102142959G>A , CM000674.1:g.102142959G>A | GRCh37 |
| NC_000012.10:g.100667090G>A | NCBI36 |
| NG_021243.1:g.86687C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3613C>T (GNPTAB) MANE Select | ENSP00000299314.7:p.Arg1205Ter | |
| ENST00000299314.11:c.3613C>T (GNPTAB) | ENSP00000299314.7:p.Arg1205Ter | |
| ENST00000549738.5:c.511C>T (GNPTAB) | ENSP00000450161.1:n.511C>T | |
| NM_024312.4:c.3613C>T (GNPTAB) | NP_077288.2:p.Arg1205Ter | |
| XM_011538731.1:c.3532C>T (GNPTAB) | XP_011537033.1:p.Arg1178Ter | |
| XM_011538731.2:c.3532C>T (GNPTAB) | XP_011537033.1:p.Arg1178Ter | |
| XM_017019961.1:c.3397C>T (GNPTAB) | XP_016875450.1:p.Arg1133Ter | |
| XM_017019962.2:c.2386C>T (GNPTAB) | XP_016875451.1:p.Arg796Ter | |
| XR_001748817.1:n.3646G>A (CHPT1) | ||
| NM_024312.5:c.3613C>T (GNPTAB) MANE Select | NP_077288.2:p.Arg1205Ter |