Linked Data
dbSNP Id:
rs747906860
ExAC:
1:55075104 G / C
gnomAD v2:
1-55075104-G-C
gnomAD v3:
1-54609431-G-C
gnomAD v4:
1-54609431-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54609431G>C , CM000663.2:g.54609431G>C | GRCh38 |
| NC_000001.10:g.55075104G>C , CM000663.1:g.55075104G>C | GRCh37 |
| NC_000001.9:g.54847692G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302250.7:c.1595C>G (FAM151A) MANE Select | ENSP00000306888.2:p.Ser532Cys | |
| ENST00000343744.7:c.*319G>C (ACOT11) MANE Select | ENSP00000340260.2:n.*319G>C | |
| ENST00000302250.6:c.1595C>G (FAM151A) | ENSP00000306888.2:p.Ser532Cys | |
| ENST00000343744.6:c.*319G>C (ACOT11) | ENSP00000340260.2:n.*319G>C | |
| ENST00000371304.2:c.1034C>G (FAM151A) | ENSP00000360353.2:p.Ser345Cys | |
| ENST00000371316.3:c.1629+1363G>C (ACOT11) | ENSP00000360366.3:n.1629+1363G>C | |
| ENST00000481208.5:n.2182G>C (ACOT11) | ||
| NM_015547.3:c.1629+1363G>C (ACOT11) | NP_056362.1:n.1629+1363G>C | |
| NM_147161.3:c.*319G>C (ACOT11) | NP_671517.1:n.*319G>C | |
| NM_176782.2:c.1595C>G (FAM151A) | NP_788954.2:p.Ser532Cys | |
| XM_006710599.2:c.1517C>G (FAM151A) | XP_006710662.1:p.Ser506Cys | |
| XM_006710599.3:c.1517C>G (FAM151A) | XP_006710662.1:p.Ser506Cys | |
| NM_176782.3:c.1595C>G (FAM151A) MANE Select | NP_788954.2:p.Ser532Cys | |
| NM_015547.4:c.1629+1363G>C (ACOT11) | NP_056362.1:n.1629+1363G>C | |
| NM_147161.4:c.*319G>C (ACOT11) MANE Select | NP_671517.1:n.*319G>C |