Canonical Allele Identifier: CA8514532

Gene: ACACA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37089043G>A , CM000679.2:g.37089043G>A	GRCh38
NC_000017.10:g.35445978G>A , CM000679.1:g.35445978G>A	GRCh37
NC_000017.9:g.32520091G>A	NCBI36
NG_023295.2:g.322769C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_198834.3:c.6923C>T MANE Select	NP_942131.1:p.Ala2308Val
ENST00000616317.5:c.6923C>T MANE Select	ENSP00000483300.1:p.Ala2308Val
NM_198834.2:c.6923C>T	NP_942131.1:p.Ala2308Val
NM_198836.2:c.6812C>T	NP_942133.1:p.Ala2271Val
NM_198836.3:c.6812C>T	NP_942133.1:p.Ala2271Val
NM_198837.1:c.6638C>T	NP_942134.1:p.Ala2213Val
NM_198837.2:c.6638C>T	NP_942134.1:p.Ala2213Val
NM_198838.1:c.6578C>T	NP_942135.1:p.Ala2193Val
NM_198838.2:c.6578C>T	NP_942135.1:p.Ala2193Val
NM_198839.2:c.6812C>T	NP_942136.1:p.Ala2271Val
NM_198839.3:c.6812C>T	NP_942136.1:p.Ala2271Val
ENST00000612895.4:c.6638C>T	ENSP00000482269.1:p.Ala2213Val
ENST00000613776.1:n.1049C>T
ENST00000614428.4:c.6812C>T	ENSP00000478547.1:p.Ala2271Val
ENST00000614482.4:c.1508C>T
ENST00000616317.4:c.6923C>T	ENSP00000483300.1:p.Ala2308Val
ENST00000617649.4:c.6578C>T	ENSP00000482368.1:p.Ala2193Val
ENST00000619546.4:c.2768C>T	ENSP00000483969.1:p.Ala923Val
XM_005257267.3:c.6578C>T	XP_005257324.1:p.Ala2193Val
XM_005257267.5:c.6578C>T	XP_005257324.1:p.Ala2193Val
XM_006721853.1:c.6899C>T	XP_006721916.1:p.Ala2300Val
XM_011524701.1:c.6833C>T	XP_011523003.1:p.Ala2278Val
XM_011524702.1:c.6812C>T	XP_011523004.1:p.Ala2271Val
XM_011524703.1:c.6812C>T	XP_011523005.1:p.Ala2271Val
XM_011524704.1:c.6578C>T	XP_011523006.1:p.Ala2193Val
XM_011524704.2:c.6578C>T	XP_011523006.1:p.Ala2193Val
XM_017024553.1:c.6947C>T	XP_016880042.1:p.Ala2316Val
XM_017024554.1:c.6923C>T	XP_016880043.1:p.Ala2308Val
XM_017024555.1:c.6812C>T	XP_016880044.1:p.Ala2271Val