This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00064465 (NFE)
Genomes Max Group AF
0.00057239 (NFE)
Exomes Max Group AF
0.00064009 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42693715C>A , CM000665.2:g.42693715C>A | GRCh38 |
| NC_000003.11:g.42735207C>A , CM000665.1:g.42735207C>A | GRCh37 |
| NC_000003.10:g.42710211C>A | NCBI36 |
| NG_033035.1:g.13197C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441594.6:c.1150G>T (HHATL) MANE Select | ENSP00000405423.1:p.Asp384Tyr | |
| ENST00000310417.9:c.1150G>T (HHATL) | ENSP00000310621.5:p.Asp384Tyr | |
| ENST00000426666.5:c.136-526G>T (HHATL) | ||
| ENST00000441594.5:c.1150G>T (HHATL) | ENSP00000405423.1:p.Asp384Tyr | |
| ENST00000466007.1:n.249G>T (HHATL) | ||
| ENST00000479631.5:n.356-840G>T (CCDC13) | ||
| ENST00000480939.1:n.487G>T (HHATL) | ||
| NM_020707.3:c.1150G>T (HHATL) | NP_065758.3:p.Asp384Tyr | |
| NR_027753.1:n.1297G>T (HHATL) | ||
| XM_006713274.1:c.1150G>T (HHATL) | XP_006713337.1:p.Asp384Tyr | |
| XM_006713275.1:c.955G>T (HHATL) | XP_006713338.1:p.Asp319Tyr | |
| XM_011533969.1:c.1219G>T (HHATL) | XP_011532271.1:p.Asp407Tyr | |
| XM_011533970.1:c.1024G>T (HHATL) | XP_011532272.1:p.Asp342Tyr | |
| XR_940482.1:n.1332G>T (HHATL) | ||
| XR_940483.1:n.1161G>T (HHATL) | ||
| XR_940484.1:n.1187G>T (HHATL) | ||
| XM_006713274.3:c.1150G>T (HHATL) | XP_006713337.1:p.Asp384Tyr | |
| XM_006713275.2:c.955G>T (HHATL) | XP_006713338.1:p.Asp319Tyr | |
| XM_011533969.2:c.1219G>T (HHATL) | XP_011532271.1:p.Asp407Tyr | |
| XM_011533970.2:c.1024G>T (HHATL) | XP_011532272.1:p.Asp342Tyr | |
| XM_017006935.1:c.1219G>T (HHATL) | XP_016862424.1:p.Asp407Tyr | |
| XM_017006936.1:c.1150G>T (HHATL) | XP_016862425.1:p.Asp384Tyr | |
| XM_017006937.1:c.955G>T (HHATL) | XP_016862426.1:p.Asp319Tyr | |
| XM_017006938.1:c.955G>T (HHATL) | XP_016862427.1:p.Asp319Tyr | |
| XR_001740219.2:n.1298G>T (HHATL) | ||
| XR_001740220.1:n.1289G>T (HHATL) | ||
| XR_001740221.1:n.1147G>T (HHATL) | ||
| XR_002959565.1:n.1822G>T (HHATL) | ||
| XR_940482.2:n.1475G>T (HHATL) | ||
| XR_940483.2:n.1305G>T (HHATL) | ||
| XR_940484.2:n.1332G>T (HHATL) | ||
| NM_020707.4:c.1150G>T (HHATL) MANE Select | NP_065758.3:p.Asp384Tyr | |
| NR_027753.2:n.1297G>T (HHATL) |