Canonical Allele Identifier: CA607280788

Gene: ACACB

Linked Data

• dbSNP Id: rs2284689
• gnomAD v2: 12-109685545-A-T
• gnomAD v4: 12-109247740-A-T
• MyVariant Identifiers: chr12:g.109685545A>T (hg19) ; chr12:g.109247740A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109247740A>T , CM000674.2:g.109247740A>T	GRCh38
NC_000012.11:g.109685545A>T , CM000674.1:g.109685545A>T	GRCh37
NC_000012.10:g.108169928A>T	NCBI36
NG_046907.1:g.141557A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000338432.12:c.5669+37A>T MANE Select	ENSP00000341044.7:n.5669+37A>T
ENST00000338432.11:c.5669+37A>T	ENSP00000341044.7:n.5669+37A>T
ENST00000377848.7:c.5669+37A>T	ENSP00000367079.3:n.5669+37A>T
ENST00000377854.9:c.1667+37A>T	ENSP00000367085.6:n.1667+37A>T
ENST00000536440.2:c.305+1292A>T
ENST00000538526.5:c.1668+37A>T
NM_001093.3:c.5669+37A>T	NP_001084.3:n.5669+37A>T
XM_005253876.3:c.5669+37A>T	XP_005253933.1:n.5669+37A>T
XM_006719365.2:c.5669+37A>T	XP_006719428.1:n.5669+37A>T
XM_006719367.2:c.5063+37A>T	XP_006719430.1:n.5063+37A>T
XM_011538259.1:c.5669+37A>T	XP_011536561.1:n.5669+37A>T
XM_011538260.1:c.5669+37A>T	XP_011536562.1:n.5669+37A>T
XM_011538261.1:c.5669+37A>T	XP_011536563.1:n.5669+37A>T
XM_011538262.1:c.5669+37A>T	XP_011536564.1:n.5669+37A>T
XM_011538263.1:c.5480+37A>T	XP_011536565.1:n.5480+37A>T
XM_011538264.1:c.5042+37A>T	XP_011536566.1:n.5042+37A>T
XR_944530.1:n.6416+37A>T
XR_944531.1:n.6416+37A>T
XR_944532.1:n.6416+37A>T
XR_944533.1:n.6319+1292A>T
XM_005253876.4:c.5669+37A>T	XP_005253933.1:n.5669+37A>T
XM_006719367.4:c.5063+37A>T	XP_006719430.1:n.5063+37A>T
XM_011538259.2:c.5669+37A>T	XP_011536561.1:n.5669+37A>T
XM_011538263.3:c.5480+37A>T	XP_011536565.1:n.5480+37A>T
XM_011538264.3:c.5042+37A>T	XP_011536566.1:n.5042+37A>T
XM_017019252.2:c.4874+37A>T	XP_016874741.1:n.4874+37A>T
XR_002957320.1:n.6427+37A>T
XR_002957321.1:n.6329+1292A>T
XR_002957322.1:n.5216+1292A>T
XR_944530.2:n.6427+37A>T
XR_944532.3:n.6427+37A>T
NM_001093.4:c.5669+37A>T MANE Select	NP_001084.3:n.5669+37A>T