Linked Data
dbSNP Id:
rs1442203732
gnomAD v2:
1-55075321-C-A
gnomAD v3:
1-54609648-C-A
gnomAD v4:
1-54609648-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54609648C>A , CM000663.2:g.54609648C>A | GRCh38 |
| NC_000001.10:g.55075321C>A , CM000663.1:g.55075321C>A | GRCh37 |
| NC_000001.9:g.54847909C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302250.7:c.1378G>T (FAM151A) MANE Select | ENSP00000306888.2:p.Gly460Cys | |
| ENST00000343744.7:c.*536C>A (ACOT11) MANE Select | ENSP00000340260.2:n.*536C>A | |
| ENST00000302250.6:c.1378G>T (FAM151A) | ENSP00000306888.2:p.Gly460Cys | |
| ENST00000343744.6:c.*536C>A (ACOT11) | ENSP00000340260.2:n.*536C>A | |
| ENST00000371304.2:c.918-101G>T (FAM151A) | ENSP00000360353.2:n.918-101G>T | |
| ENST00000371316.3:c.1629+1580C>A (ACOT11) | ENSP00000360366.3:n.1629+1580C>A | |
| ENST00000481208.5:n.2399C>A (ACOT11) | ||
| NM_015547.3:c.1629+1580C>A (ACOT11) | NP_056362.1:n.1629+1580C>A | |
| NM_147161.3:c.*536C>A (ACOT11) | NP_671517.1:n.*536C>A | |
| NM_176782.2:c.1378G>T (FAM151A) | NP_788954.2:p.Gly460Cys | |
| XM_006710599.2:c.1300G>T (FAM151A) | XP_006710662.1:p.Gly434Cys | |
| XM_006710599.3:c.1300G>T (FAM151A) | XP_006710662.1:p.Gly434Cys | |
| NM_176782.3:c.1378G>T (FAM151A) MANE Select | NP_788954.2:p.Gly460Cys | |
| NM_015547.4:c.1629+1580C>A (ACOT11) | NP_056362.1:n.1629+1580C>A | |
| NM_147161.4:c.*536C>A (ACOT11) MANE Select | NP_671517.1:n.*536C>A |