Canonical Allele Identifier: CA2258305988
Gene: ACACA HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_198834.3:c.1923G= MANE Select NP_942131.1:p.Gln641=
ENST00000616317.5:c.1923G= MANE Select ENSP00000483300.1:p.Gln641=
NM_198834.2:c.1923G= NP_942131.1:p.Gln641=
NM_198836.2:c.1812G= NP_942133.1:p.Gln604=
NM_198836.3:c.1812G= NP_942133.1:p.Gln604=
NM_198837.1:c.1638G= NP_942134.1:p.Gln546=
NM_198837.2:c.1638G= NP_942134.1:p.Gln546=
NM_198838.1:c.1578G= NP_942135.1:p.Gln526=
NM_198838.2:c.1578G= NP_942135.1:p.Gln526=
NM_198839.2:c.1812G= NP_942136.1:p.Gln604=
NM_198839.3:c.1812G= NP_942136.1:p.Gln604=
ENST00000612895.4:c.1638G= ENSP00000482269.1:p.Gln546=
ENST00000613146.4:n.2008G=
ENST00000614428.4:c.1812G= ENSP00000478547.1:p.Gln604=
ENST00000616317.4:c.1923G= ENSP00000483300.1:p.Gln641=
ENST00000617649.4:c.1578G= ENSP00000482368.1:p.Gln526=
XM_005257267.3:c.1578G= XP_005257324.1:p.Gln526=
XM_005257267.5:c.1578G= XP_005257324.1:p.Gln526=
XM_006721853.1:c.1923G= XP_006721916.1:p.Gln641=
XM_011524701.1:c.1833G= XP_011523003.1:p.Gln611=
XM_011524702.1:c.1812G= XP_011523004.1:p.Gln604=
XM_011524703.1:c.1812G= XP_011523005.1:p.Gln604=
XM_011524704.1:c.1578G= XP_011523006.1:p.Gln526=
XM_011524704.2:c.1578G= XP_011523006.1:p.Gln526=
XM_017024553.1:c.1947G= XP_016880042.1:p.Gln649=
XM_017024554.1:c.1947G= XP_016880043.1:p.Gln649=
XM_017024555.1:c.1812G= XP_016880044.1:p.Gln604=
XR_001752504.1:n.2470G=
XR_934449.1:n.2446G=