Canonical Allele Identifier: CA252465
Gene: ACAT1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2839
ClinVar RCV Id: RCV000002973
dbSNP Id: rs120074143

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108146332G>T , CM000673.2:g.108146332G>T GRCh38
NC_000011.9:g.108017059G>T , CM000673.1:g.108017059G>T GRCh37
NC_000011.8:g.107522269G>T NCBI36
NG_009888.1:g.29802G>T

Transcript Alleles

HGVS Amino-acid change
NM_000019.3:c.1136G>T VV NP_000010.1:p.Gly379Val
XM_006718834.2:c.866G>T XP_006718897.1:p.Gly289Val
XM_006718835.2:c.866G>T XP_006718898.1:p.Gly289Val
XM_006718835.3:c.866G>T
XM_017017681.1:c.866G>T XP_016873170.1:p.Gly289Val
XM_017017682.2:c.758G>T XP_016873171.1:p.Gly253Val
XM_017017683.2:c.758G>T XP_016873172.1:p.Gly253Val
XM_024448511.1:c.866G>T XP_024304279.1:p.Gly289Val
XM_024448512.1:c.866G>T XP_024304280.1:p.Gly289Val
XM_024448513.1:c.866G>T XP_024304281.1:p.Gly289Val
XM_024448514.1:c.866G>T XP_024304282.1:p.Gly289Val
XM_024448515.1:c.866G>T XP_024304283.1:p.Gly289Val
ENST00000265838.8:c.1136G>T ENSP00000265838.4:p.Gly379Val
ENST00000533597.1:n.212G>T