Linked Data
dbSNP Id:
rs767823797
ExAC:
1:55075404 G / A
gnomAD v2:
1-55075404-G-A
gnomAD v4:
1-54609731-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54609731G>A , CM000663.2:g.54609731G>A | GRCh38 |
| NC_000001.10:g.55075404G>A , CM000663.1:g.55075404G>A | GRCh37 |
| NC_000001.9:g.54847992G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302250.7:c.1295C>T (FAM151A) MANE Select | ENSP00000306888.2:p.Ser432Phe | |
| ENST00000343744.7:c.*619G>A (ACOT11) MANE Select | ENSP00000340260.2:n.*619G>A | |
| ENST00000302250.6:c.1295C>T (FAM151A) | ENSP00000306888.2:p.Ser432Phe | |
| ENST00000343744.6:c.*619G>A (ACOT11) | ENSP00000340260.2:n.*619G>A | |
| ENST00000371304.2:c.918-184C>T (FAM151A) | ENSP00000360353.2:n.918-184C>T | |
| ENST00000371316.3:c.1629+1663G>A (ACOT11) | ENSP00000360366.3:n.1629+1663G>A | |
| ENST00000481208.5:n.2482G>A (ACOT11) | ||
| NM_015547.3:c.1629+1663G>A (ACOT11) | NP_056362.1:n.1629+1663G>A | |
| NM_147161.3:c.*619G>A (ACOT11) | NP_671517.1:n.*619G>A | |
| NM_176782.2:c.1295C>T (FAM151A) | NP_788954.2:p.Ser432Phe | |
| XM_006710599.2:c.1217C>T (FAM151A) | XP_006710662.1:p.Ser406Phe | |
| XM_006710599.3:c.1217C>T (FAM151A) | XP_006710662.1:p.Ser406Phe | |
| NM_176782.3:c.1295C>T (FAM151A) MANE Select | NP_788954.2:p.Ser432Phe | |
| NM_015547.4:c.1629+1663G>A (ACOT11) | NP_056362.1:n.1629+1663G>A | |
| NM_147161.4:c.*619G>A (ACOT11) MANE Select | NP_671517.1:n.*619G>A |