Canonical Allele Identifier: CA6263404
Gene: ACAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 438580
ClinVar RCV Id: RCV000505498
dbSNP Id: rs761086326

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108147305A>G , CM000673.2:g.108147305A>G GRCh38
NC_000011.9:g.108018032A>G , CM000673.1:g.108018032A>G GRCh37
NC_000011.8:g.107523242A>G NCBI36
NG_009888.1:g.30775A>G
NG_009888.2:g.35601A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265838.9:c.1199A>G MANE Select ENSP00000265838.4:p.His400Arg
ENST00000671707.1:n.1294A>G
ENST00000672031.1:c.*186A>G ENSP00000500463.1:n.*186A>G
ENST00000672284.1:c.929A>G ENSP00000500444.1:p.His310Arg
ENST00000672354.1:c.1220A>G ENSP00000500490.1:p.His407Arg
ENST00000672367.1:c.836A>G ENSP00000500209.1:p.His279Arg
ENST00000672580.1:c.*454A>G ENSP00000500366.1:n.*454A>G
ENST00000672907.1:c.884A>G ENSP00000500928.1:p.His295Arg
ENST00000673000.1:n.1287A>G
ENST00000673531.1:c.929A>G ENSP00000500163.1:p.His310Arg
ENST00000265838.8:c.1199A>G ENSP00000265838.4:p.His400Arg
ENST00000533597.1:n.275A>G
NM_000019.3:c.1199A>G NP_000010.1:p.His400Arg
XM_006718834.2:c.929A>G XP_006718897.1:p.His310Arg
XM_006718835.2:c.929A>G XP_006718898.1:p.His310Arg
XM_006718835.3:c.929A>G XP_006718898.1:p.His310Arg
XM_017017681.1:c.929A>G XP_016873170.1:p.His310Arg
XM_017017682.2:c.821A>G XP_016873171.1:p.His274Arg
XM_017017683.2:c.821A>G XP_016873172.1:p.His274Arg
XM_024448511.1:c.929A>G XP_024304279.1:p.His310Arg
XM_024448512.1:c.929A>G XP_024304280.1:p.His310Arg
XM_024448513.1:c.929A>G XP_024304281.1:p.His310Arg
XM_024448514.1:c.929A>G XP_024304282.1:p.His310Arg
XM_024448515.1:c.929A>G XP_024304283.1:p.His310Arg
NM_000019.4:c.1199A>G MANE Select NP_000010.1:p.His400Arg
NM_001386677.1:c.1220A>G NP_001373606.1:p.His407Arg
NM_001386678.1:c.884A>G NP_001373607.1:p.His295Arg
NM_001386679.1:c.902A>G NP_001373608.1:p.His301Arg
NM_001386681.1:c.929A>G NP_001373610.1:p.His310Arg
NM_001386682.1:c.929A>G NP_001373611.1:p.His310Arg
NM_001386685.1:c.929A>G NP_001373614.1:p.His310Arg
NM_001386686.1:c.929A>G NP_001373615.1:p.His310Arg
NM_001386687.1:c.929A>G NP_001373616.1:p.His310Arg
NM_001386688.1:c.929A>G NP_001373617.1:p.His310Arg
NM_001386689.1:c.929A>G NP_001373618.1:p.His310Arg
NM_001386690.1:c.929A>G NP_001373619.1:p.His310Arg
NM_001386691.1:c.929A>G NP_001373620.1:p.His310Arg
NR_170162.1:n.1174A>G
NR_170163.1:n.1232A>G