Canonical Allele Identifier: CA2615845613
Gene: ACAT1 HGNC NCBI

Linked Data

gnomAD v4: 11-108147609-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108147609A>C , CM000673.2:g.108147609A>C GRCh38
NC_000011.9:g.108018336A>C , CM000673.1:g.108018336A>C GRCh37
NC_000011.8:g.107523546A>C NCBI36
NG_009888.1:g.31079A>C
NG_009888.2:g.35905A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265838.8:c.*219A>C ENSP00000265838.4:n.*219A>C
NM_000019.3:c.*219A>C NP_000010.1:n.*219A>C
XM_006718834.2:c.*219A>C XP_006718897.1:n.*219A>C
XM_006718835.2:c.*219A>C XP_006718898.1:n.*219A>C
XM_017017682.2:c.*219A>C XP_016873171.1:n.*219A>C
XM_017017683.2:c.*219A>C XP_016873172.1:n.*219A>C
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