Canonical Allele Identifier: CA340442317
Gene: FAM151A HGNC NCBI
ACOT11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54609683G>C , CM000663.2:g.54609683G>C GRCh38
NC_000001.10:g.55075356G>C , CM000663.1:g.55075356G>C GRCh37
NC_000001.9:g.54847944G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302250.7:c.1343C>G (FAM151A) MANE Select ENSP00000306888.2:p.Ser448Cys
ENST00000343744.7:c.*571G>C (ACOT11) MANE Select ENSP00000340260.2:n.*571G>C
ENST00000302250.6:c.1343C>G (FAM151A) ENSP00000306888.2:p.Ser448Cys
ENST00000343744.6:c.*571G>C (ACOT11) ENSP00000340260.2:n.*571G>C
ENST00000371304.2:c.918-136C>G (FAM151A) ENSP00000360353.2:n.918-136C>G
ENST00000371316.3:c.1629+1615G>C (ACOT11) ENSP00000360366.3:n.1629+1615G>C
ENST00000481208.5:n.2434G>C (ACOT11)
NM_015547.3:c.1629+1615G>C (ACOT11) NP_056362.1:n.1629+1615G>C
NM_147161.3:c.*571G>C (ACOT11) NP_671517.1:n.*571G>C
NM_176782.2:c.1343C>G (FAM151A) NP_788954.2:p.Ser448Cys
XM_006710599.2:c.1265C>G (FAM151A) XP_006710662.1:p.Ser422Cys
XM_006710599.3:c.1265C>G (FAM151A) XP_006710662.1:p.Ser422Cys
NM_176782.3:c.1343C>G (FAM151A) MANE Select NP_788954.2:p.Ser448Cys
NM_015547.4:c.1629+1615G>C (ACOT11) NP_056362.1:n.1629+1615G>C
NM_147161.4:c.*571G>C (ACOT11) MANE Select NP_671517.1:n.*571G>C