Canonical Allele Identifier: CA6773852
Gene: ACACB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109206791G>A , CM000674.2:g.109206791G>A GRCh38
NC_000012.11:g.109644596G>A , CM000674.1:g.109644596G>A GRCh37
NC_000012.10:g.108128979G>A NCBI36
NG_046907.1:g.100608G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338432.12:c.2995G>A MANE Select ENSP00000341044.7:p.Val999Ile
ENST00000338432.11:c.2995G>A ENSP00000341044.7:p.Val999Ile
ENST00000377848.7:c.2995G>A ENSP00000367079.3:p.Val999Ile
ENST00000377854.9:c.-1008G>A ENSP00000367085.6:n.-1008G>A
NM_001093.3:c.2995G>A NP_001084.3:p.Val999Ile
XM_005253876.3:c.2995G>A XP_005253933.1:p.Val999Ile
XM_006719365.2:c.2995G>A XP_006719428.1:p.Val999Ile
XM_006719367.2:c.2389G>A XP_006719430.1:p.Val797Ile
XM_011538259.1:c.2995G>A XP_011536561.1:p.Val999Ile
XM_011538260.1:c.2995G>A XP_011536562.1:p.Val999Ile
XM_011538261.1:c.2995G>A XP_011536563.1:p.Val999Ile
XM_011538262.1:c.2995G>A XP_011536564.1:p.Val999Ile
XM_011538263.1:c.2995G>A XP_011536565.1:p.Val999Ile
XM_011538264.1:c.2368G>A XP_011536566.1:p.Val790Ile
XM_011538265.1:c.2995G>A XP_011536567.1:p.Val999Ile
XR_944530.1:n.3742G>A
XR_944531.1:n.3742G>A
XR_944532.1:n.3742G>A
XR_944533.1:n.3743G>A
XM_005253876.4:c.2995G>A XP_005253933.1:p.Val999Ile
XM_006719367.4:c.2389G>A XP_006719430.1:p.Val797Ile
XM_011538259.2:c.2995G>A XP_011536561.1:p.Val999Ile
XM_011538263.3:c.2995G>A XP_011536565.1:p.Val999Ile
XM_011538264.3:c.2368G>A XP_011536566.1:p.Val790Ile
XM_011538265.2:c.2995G>A XP_011536567.1:p.Val999Ile
XM_017019252.2:c.2389G>A XP_016874741.1:p.Val797Ile
XR_002957320.1:n.3753G>A
XR_002957321.1:n.3753G>A
XR_002957322.1:n.2640G>A
XR_944530.2:n.3753G>A
XR_944532.3:n.3753G>A
NM_001093.4:c.2995G>A MANE Select NP_001084.3:p.Val999Ile