Canonical Allele Identifier: CA866939
Gene: FAM151A HGNC NCBI
ACOT11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2296849
ClinVar RCV Id: RCV004140970
dbSNP Id: rs549597401
gnomAD v2: 1-55075410-C-T
gnomAD v3: 1-54609737-C-T
gnomAD v4: 1-54609737-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54609737C>T , CM000663.2:g.54609737C>T GRCh38
NC_000001.10:g.55075410C>T , CM000663.1:g.55075410C>T GRCh37
NC_000001.9:g.54847998C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302250.7:c.1289G>A (FAM151A) MANE Select ENSP00000306888.2:p.Arg430His
ENST00000343744.7:c.*625C>T (ACOT11) MANE Select ENSP00000340260.2:n.*625C>T
ENST00000302250.6:c.1289G>A (FAM151A) ENSP00000306888.2:p.Arg430His
ENST00000343744.6:c.*625C>T (ACOT11) ENSP00000340260.2:n.*625C>T
ENST00000371304.2:c.918-190G>A (FAM151A) ENSP00000360353.2:n.918-190G>A
ENST00000371316.3:c.1629+1669C>T (ACOT11) ENSP00000360366.3:n.1629+1669C>T
ENST00000481208.5:n.2488C>T (ACOT11)
NM_015547.3:c.1629+1669C>T (ACOT11) NP_056362.1:n.1629+1669C>T
NM_147161.3:c.*625C>T (ACOT11) NP_671517.1:n.*625C>T
NM_176782.2:c.1289G>A (FAM151A) NP_788954.2:p.Arg430His
XM_006710599.2:c.1211G>A (FAM151A) XP_006710662.1:p.Arg404His
XM_006710599.3:c.1211G>A (FAM151A) XP_006710662.1:p.Arg404His
NM_176782.3:c.1289G>A (FAM151A) MANE Select NP_788954.2:p.Arg430His
NM_015547.4:c.1629+1669C>T (ACOT11) NP_056362.1:n.1629+1669C>T
NM_147161.4:c.*625C>T (ACOT11) MANE Select NP_671517.1:n.*625C>T