Canonical Allele Identifier: CA683408916

Gene: ACACB

Linked Data

• dbSNP Id: rs1160652702
• gnomAD v3: 12-109247756-G-A
• gnomAD v4: 12-109247756-G-A
• MyVariant Identifiers: chr12:g.109685561G>A (hg19) ; chr12:g.109247756G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109247756G>A , CM000674.2:g.109247756G>A	GRCh38
NC_000012.11:g.109685561G>A , CM000674.1:g.109685561G>A	GRCh37
NC_000012.10:g.108169944G>A	NCBI36
NG_046907.1:g.141573G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000338432.12:c.5669+53G>A MANE Select	ENSP00000341044.7:n.5669+53G>A
ENST00000338432.11:c.5669+53G>A	ENSP00000341044.7:n.5669+53G>A
ENST00000377848.7:c.5669+53G>A	ENSP00000367079.3:n.5669+53G>A
ENST00000377854.9:c.1667+53G>A	ENSP00000367085.6:n.1667+53G>A
ENST00000536440.2:c.305+1308G>A
ENST00000538526.5:c.1668+53G>A
NM_001093.3:c.5669+53G>A	NP_001084.3:n.5669+53G>A
XM_005253876.3:c.5669+53G>A	XP_005253933.1:n.5669+53G>A
XM_006719365.2:c.5669+53G>A	XP_006719428.1:n.5669+53G>A
XM_006719367.2:c.5063+53G>A	XP_006719430.1:n.5063+53G>A
XM_011538259.1:c.5669+53G>A	XP_011536561.1:n.5669+53G>A
XM_011538260.1:c.5669+53G>A	XP_011536562.1:n.5669+53G>A
XM_011538261.1:c.5669+53G>A	XP_011536563.1:n.5669+53G>A
XM_011538262.1:c.5669+53G>A	XP_011536564.1:n.5669+53G>A
XM_011538263.1:c.5480+53G>A	XP_011536565.1:n.5480+53G>A
XM_011538264.1:c.5042+53G>A	XP_011536566.1:n.5042+53G>A
XR_944530.1:n.6416+53G>A
XR_944531.1:n.6416+53G>A
XR_944532.1:n.6416+53G>A
XR_944533.1:n.6319+1308G>A
XM_005253876.4:c.5669+53G>A	XP_005253933.1:n.5669+53G>A
XM_006719367.4:c.5063+53G>A	XP_006719430.1:n.5063+53G>A
XM_011538259.2:c.5669+53G>A	XP_011536561.1:n.5669+53G>A
XM_011538263.3:c.5480+53G>A	XP_011536565.1:n.5480+53G>A
XM_011538264.3:c.5042+53G>A	XP_011536566.1:n.5042+53G>A
XM_017019252.2:c.4874+53G>A	XP_016874741.1:n.4874+53G>A
XR_002957320.1:n.6427+53G>A
XR_002957321.1:n.6329+1308G>A
XR_002957322.1:n.5216+1308G>A
XR_944530.2:n.6427+53G>A
XR_944532.3:n.6427+53G>A
NM_001093.4:c.5669+53G>A MANE Select	NP_001084.3:n.5669+53G>A