Revel Score:
ENST00000392584
0.449
ENST00000264108 (MANE Select)
0.449
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.171965411C>T , CM000664.2:g.171965411C>T | GRCh38 |
| NC_000002.11:g.172821932C>T , CM000664.1:g.172821932C>T | GRCh37 |
| NC_000002.10:g.172530178C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264108.5:c.383C>T (HAT1) MANE Select | ENSP00000264108.4:p.Ser128Phe | |
| ENST00000264108.4:c.383C>T (HAT1) | ENSP00000264108.4:p.Ser128Phe | |
| ENST00000392584.2:n.579C>T (HAT1) | ||
| ENST00000412731.5:c.*166C>T (HAT1) | ENSP00000407921.1:n.*166C>T | |
| ENST00000457761.6:c.262C>T (HAT1) | ENSP00000403466.2:p.Leu88Phe | |
| ENST00000464063.1:n.181+34268G>A (SLC25A12) | ||
| ENST00000472748.5:n.177+34268G>A (SLC25A12) | ||
| ENST00000484227.5:n.210+25936G>A (SLC25A12) | ||
| ENST00000494601.5:n.2697C>T (HAT1) | ||
| NM_003642.3:c.383C>T (HAT1) | NP_003633.1:p.Ser128Phe | |
| NR_027862.1:n.383C>T (HAT1) | ||
| XM_006712808.2:c.365C>T (HAT1) | XP_006712871.1:p.Ser122Phe | |
| XM_011512027.1:c.365C>T (HAT1) | XP_011510329.1:p.Ser122Phe | |
| XM_006712808.3:c.365C>T (HAT1) | XP_006712871.1:p.Ser122Phe | |
| XM_017005136.2:c.365C>T (HAT1) | XP_016860625.1:p.Ser122Phe | |
| XM_017005137.2:c.365C>T (HAT1) | XP_016860626.1:p.Ser122Phe | |
| XM_024453186.1:c.365C>T (HAT1) | XP_024308954.1:p.Ser122Phe | |
| XM_024453187.1:c.365C>T (HAT1) | XP_024308955.1:p.Ser122Phe | |
| NM_003642.4:c.383C>T (HAT1) MANE Select | NP_003633.2:p.Ser128Phe | |
| NR_027862.2:n.347C>T (HAT1) |