Canonical Allele Identifier: CA399194413

Gene: ACACA

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37252940C>A , CM000679.2:g.37252940C>A	GRCh38
NC_000017.10:g.35609866C>A , CM000679.1:g.35609866C>A	GRCh37
NC_000017.9:g.32683979C>A	NCBI36
NG_023295.2:g.158872G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616317.5:c.1923G>T MANE Select	ENSP00000483300.1:p.Gln641His
ENST00000612895.4:c.1638G>T	ENSP00000482269.1:p.Gln546His
ENST00000613146.4:n.2008G>T
ENST00000614428.4:c.1812G>T	ENSP00000478547.1:p.Gln604His
ENST00000616317.4:c.1923G>T	ENSP00000483300.1:p.Gln641His
ENST00000617649.4:c.1578G>T	ENSP00000482368.1:p.Gln526His
NM_198834.2:c.1923G>T	NP_942131.1:p.Gln641His
NM_198836.2:c.1812G>T	NP_942133.1:p.Gln604His
NM_198837.1:c.1638G>T	NP_942134.1:p.Gln546His
NM_198838.1:c.1578G>T	NP_942135.1:p.Gln526His
NM_198839.2:c.1812G>T	NP_942136.1:p.Gln604His
XM_005257267.3:c.1578G>T	XP_005257324.1:p.Gln526His
XM_006721853.1:c.1923G>T	XP_006721916.1:p.Gln641His
XM_011524701.1:c.1833G>T	XP_011523003.1:p.Gln611His
XM_011524702.1:c.1812G>T	XP_011523004.1:p.Gln604His
XM_011524703.1:c.1812G>T	XP_011523005.1:p.Gln604His
XM_011524704.1:c.1578G>T	XP_011523006.1:p.Gln526His
XR_934449.1:n.2446G>T
XM_005257267.5:c.1578G>T	XP_005257324.1:p.Gln526His
XM_011524704.2:c.1578G>T	XP_011523006.1:p.Gln526His
XM_017024553.1:c.1947G>T	XP_016880042.1:p.Gln649His
XM_017024554.1:c.1947G>T	XP_016880043.1:p.Gln649His
XM_017024555.1:c.1812G>T	XP_016880044.1:p.Gln604His
XR_001752504.1:n.2470G>T
NM_198834.3:c.1923G>T MANE Select	NP_942131.1:p.Gln641His
NM_198836.3:c.1812G>T	NP_942133.1:p.Gln604His
NM_198837.2:c.1638G>T	NP_942134.1:p.Gln546His
NM_198838.2:c.1578G>T	NP_942135.1:p.Gln526His
NM_198839.3:c.1812G>T	NP_942136.1:p.Gln604His