Canonical Allele Identifier: CA10629766

Gene: ACAT1

Linked Data

• ClinVar Variation Id: 302193
• ClinVar RCV Id: RCV000386603
• dbSNP Id: rs566741161
• gnomAD v2: 11-107992264-T-A
• gnomAD v3: 11-108121537-T-A
• gnomAD v4: 11-108121537-T-A
• MyVariant Identifiers: chr11:g.107992264T>A (hg19) ; chr11:g.108121537T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108121537T>A , CM000673.2:g.108121537T>A	GRCh38
NC_000011.9:g.107992264T>A , CM000673.1:g.107992264T>A	GRCh37
NC_000011.8:g.107497474T>A	NCBI36
NG_009888.1:g.5007T>A
NG_009888.2:g.9833T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000672284.1:c.-199+4635T>A	ENSP00000500444.1:n.-199+4635T>A
ENST00000265838.8:c.-70T>A	ENSP00000265838.4:n.-70T>A
NM_000019.3:c.-70T>A	NP_000010.1:n.-70T>A
XM_024448512.1:c.-199+4635T>A	XP_024304280.1:n.-199+4635T>A
NM_001386681.1:c.-199+4635T>A	NP_001373610.1:n.-199+4635T>A
NM_001386682.1:c.-416+4635T>A	NP_001373611.1:n.-416+4635T>A