Canonical Allele Identifier: CA866846
Gene: FAM151A HGNC NCBI
ACOT11 HGNC NCBI

Linked Data

dbSNP Id: rs773283147
gnomAD v2: 1-55075029-G-T
gnomAD v4: 1-54609356-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54609356G>T , CM000663.2:g.54609356G>T GRCh38
NC_000001.10:g.55075029G>T , CM000663.1:g.55075029G>T GRCh37
NC_000001.9:g.54847617G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302250.7:c.1670C>A (FAM151A) MANE Select ENSP00000306888.2:p.Ala557Glu
ENST00000343744.7:c.*244G>T (ACOT11) MANE Select ENSP00000340260.2:n.*244G>T
ENST00000302250.6:c.1670C>A (FAM151A) ENSP00000306888.2:p.Ala557Glu
ENST00000343744.6:c.*244G>T (ACOT11) ENSP00000340260.2:n.*244G>T
ENST00000371304.2:c.1109C>A (FAM151A) ENSP00000360353.2:p.Ala370Glu
ENST00000371316.3:c.1629+1288G>T (ACOT11) ENSP00000360366.3:n.1629+1288G>T
ENST00000481208.5:n.2107G>T (ACOT11)
NM_015547.3:c.1629+1288G>T (ACOT11) NP_056362.1:n.1629+1288G>T
NM_147161.3:c.*244G>T (ACOT11) NP_671517.1:n.*244G>T
NM_176782.2:c.1670C>A (FAM151A) NP_788954.2:p.Ala557Glu
XM_006710599.2:c.1592C>A (FAM151A) XP_006710662.1:p.Ala531Glu
XM_006710599.3:c.1592C>A (FAM151A) XP_006710662.1:p.Ala531Glu
NM_176782.3:c.1670C>A (FAM151A) MANE Select NP_788954.2:p.Ala557Glu
NM_015547.4:c.1629+1288G>T (ACOT11) NP_056362.1:n.1629+1288G>T
NM_147161.4:c.*244G>T (ACOT11) MANE Select NP_671517.1:n.*244G>T