Canonical Allele Identifier: CA243432343

Gene: ACACB

Linked Data

• dbSNP Id: rs562030157
• gnomAD v2: 12-109686807-A-G
• gnomAD v3: 12-109249002-A-G
• gnomAD v4: 12-109249002-A-G
• MyVariant Identifiers: chr12:g.109686807A>G (hg19) ; chr12:g.109249002A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109249002A>G , CM000674.2:g.109249002A>G	GRCh38
NC_000012.11:g.109686807A>G , CM000674.1:g.109686807A>G	GRCh37
NC_000012.10:g.108171190A>G	NCBI36
NG_046907.1:g.142819A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000338432.12:c.5670-982A>G MANE Select	ENSP00000341044.7:n.5670-982A>G
ENST00000338432.11:c.5670-982A>G	ENSP00000341044.7:n.5670-982A>G
ENST00000377848.7:c.5670-982A>G	ENSP00000367079.3:n.5670-982A>G
ENST00000377854.9:c.1668-982A>G	ENSP00000367085.6:n.1668-982A>G
ENST00000396233.4:n.45A>G
ENST00000536440.2:c.306-982A>G
ENST00000538526.5:c.1669-982A>G
NM_001093.3:c.5670-982A>G	NP_001084.3:n.5670-982A>G
XM_005253876.3:c.5670-982A>G	XP_005253933.1:n.5670-982A>G
XM_006719365.2:c.5670-982A>G	XP_006719428.1:n.5670-982A>G
XM_006719367.2:c.5064-982A>G	XP_006719430.1:n.5064-982A>G
XM_011538259.1:c.5670-982A>G	XP_011536561.1:n.5670-982A>G
XM_011538260.1:c.5670-982A>G	XP_011536562.1:n.5670-982A>G
XM_011538261.1:c.5670-982A>G	XP_011536563.1:n.5670-982A>G
XM_011538262.1:c.5670-982A>G	XP_011536564.1:n.5670-982A>G
XM_011538263.1:c.5481-982A>G	XP_011536565.1:n.5481-982A>G
XM_011538264.1:c.5043-982A>G	XP_011536566.1:n.5043-982A>G
XR_944530.1:n.6417-982A>G
XR_944531.1:n.6417-982A>G
XR_944532.1:n.6417-982A>G
XR_944533.1:n.6320-982A>G
XM_005253876.4:c.5670-982A>G	XP_005253933.1:n.5670-982A>G
XM_006719367.4:c.5064-982A>G	XP_006719430.1:n.5064-982A>G
XM_011538259.2:c.5670-982A>G	XP_011536561.1:n.5670-982A>G
XM_011538263.3:c.5481-982A>G	XP_011536565.1:n.5481-982A>G
XM_011538264.3:c.5043-982A>G	XP_011536566.1:n.5043-982A>G
XM_017019252.2:c.4875-982A>G	XP_016874741.1:n.4875-982A>G
XR_002957320.1:n.6428-982A>G
XR_002957321.1:n.6330-982A>G
XR_002957322.1:n.5217-982A>G
XR_944530.2:n.6428-982A>G
XR_944532.3:n.6428-982A>G
NM_001093.4:c.5670-982A>G MANE Select	NP_001084.3:n.5670-982A>G