Canonical Allele Identifier: CA942010432

Gene: ACAT1

Linked Data

• dbSNP Id: rs2077747941
• gnomAD v3: 11-108147599-G-GA
• gnomAD v4: 11-108147599-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108147603dup , CM000673.2:g.108147603dup	GRCh38
NC_000011.9:g.108018330dup , CM000673.1:g.108018330dup	GRCh37
NC_000011.8:g.107523540dup	NCBI36
NG_009888.1:g.31073dup
NG_009888.2:g.35899dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.8:c.*213dup	ENSP00000265838.4:n.*213dup
NM_000019.3:c.*213dup	NP_000010.1:n.*213dup
XM_006718834.2:c.*213dup	XP_006718897.1:n.*213dup
XM_006718835.2:c.*213dup	XP_006718898.1:n.*213dup
XM_017017682.2:c.*213dup	XP_016873171.1:n.*213dup
XM_017017683.2:c.*213dup	XP_016873172.1:n.*213dup