Canonical Allele Identifier: CA15734991
Gene: ACACB HGNC NCBI
COSMIC:
COSN19624067 (not active)
COSN20281271 (not active)
gnomAD v2:
12:109685330 G / A
gnomAD v3:
12:109247525 G / A
gnomAD v4:
chr12-109247525-G-A
Joint Max Group AF 0.38768622 (AMR)
Genomes Max Group AF 0.40075986 (EAS)
Exomes Max Group AF 0.40376117 (AMR)
dbSNP:
4766587
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109247525G>A , CM000674.2:g.109247525G>A GRCh38
NC_000012.11:g.109685330G>A , CM000674.1:g.109685330G>A GRCh37
NC_000012.10:g.108169713G>A NCBI36
NG_046907.1:g.141342G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338432.12:c.5572-81G>A MANE Select ENSP00000341044.7:n.5572-81G>A
ENST00000338432.11:c.5572-81G>A ENSP00000341044.7:n.5572-81G>A
ENST00000377848.7:c.5572-81G>A ENSP00000367079.3:n.5572-81G>A
ENST00000377854.9:c.1570-81G>A ENSP00000367085.6:n.1570-81G>A
ENST00000536440.2:c.305+1077G>A
ENST00000538526.5:c.1571-81G>A
NM_001093.3:c.5572-81G>A NP_001084.3:n.5572-81G>A
XM_005253876.3:c.5572-81G>A XP_005253933.1:n.5572-81G>A
XM_006719365.2:c.5572-81G>A XP_006719428.1:n.5572-81G>A
XM_006719367.2:c.4966-81G>A XP_006719430.1:n.4966-81G>A
XM_011538259.1:c.5572-81G>A XP_011536561.1:n.5572-81G>A
XM_011538260.1:c.5572-81G>A XP_011536562.1:n.5572-81G>A
XM_011538261.1:c.5572-81G>A XP_011536563.1:n.5572-81G>A
XM_011538262.1:c.5572-81G>A XP_011536564.1:n.5572-81G>A
XM_011538263.1:c.5383-81G>A XP_011536565.1:n.5383-81G>A
XM_011538264.1:c.4945-81G>A XP_011536566.1:n.4945-81G>A
XR_944530.1:n.6319-81G>A
XR_944531.1:n.6319-81G>A
XR_944532.1:n.6319-81G>A
XR_944533.1:n.6319+1077G>A
XM_005253876.4:c.5572-81G>A XP_005253933.1:n.5572-81G>A
XM_006719367.4:c.4966-81G>A XP_006719430.1:n.4966-81G>A
XM_011538259.2:c.5572-81G>A XP_011536561.1:n.5572-81G>A
XM_011538263.3:c.5383-81G>A XP_011536565.1:n.5383-81G>A
XM_011538264.3:c.4945-81G>A XP_011536566.1:n.4945-81G>A
XM_017019252.2:c.4777-81G>A XP_016874741.1:n.4777-81G>A
XR_002957320.1:n.6330-81G>A
XR_002957321.1:n.6329+1077G>A
XR_002957322.1:n.5216+1077G>A
XR_944530.2:n.6330-81G>A
XR_944532.3:n.6330-81G>A
NM_001093.4:c.5572-81G>A MANE Select NP_001084.3:n.5572-81G>A
Search 100 bp 5'
Search 100 bp 3'