Canonical Allele Identifier: CA6774879
Community Standard Title: NM_001093.4(ACACB):c.5835G>A (p.Leu1945=)
Gene: ACACB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109252090G>A , CM000674.2:g.109252090G>A GRCh38
NC_000012.11:g.109689895G>A , CM000674.1:g.109689895G>A GRCh37
NC_000012.10:g.108174278G>A NCBI36
NG_046907.1:g.145907G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001093.4:c.5835G>A MANE Select NP_001084.3:p.Leu1945=
ENST00000338432.12:c.5835G>A MANE Select ENSP00000341044.7:p.Leu1945=
NM_001093.3:c.5835G>A NP_001084.3:p.Leu1945=
ENST00000338432.11:c.5835G>A ENSP00000341044.7:p.Leu1945=
ENST00000377848.7:c.5835G>A ENSP00000367079.3:p.Leu1945=
ENST00000377854.9:c.1833G>A ENSP00000367085.6:p.Leu611=
ENST00000396233.4:n.1192G>A
ENST00000536440.2:c.471G>A
ENST00000538526.5:c.1834G>A
XM_005253876.3:c.5835G>A XP_005253933.1:p.Leu1945=
XM_005253876.4:c.5835G>A XP_005253933.1:p.Leu1945=
XM_006719365.2:c.5835G>A XP_006719428.1:p.Leu1945=
XM_006719367.2:c.5229G>A XP_006719430.1:p.Leu1743=
XM_006719367.4:c.5229G>A XP_006719430.1:p.Leu1743=
XM_011538259.1:c.5835G>A XP_011536561.1:p.Leu1945=
XM_011538259.2:c.5835G>A XP_011536561.1:p.Leu1945=
XM_011538260.1:c.5835G>A XP_011536562.1:p.Leu1945=
XM_011538261.1:c.5835G>A XP_011536563.1:p.Leu1945=
XM_011538262.1:c.5835G>A XP_011536564.1:p.Leu1945=
XM_011538263.1:c.5646G>A XP_011536565.1:p.Leu1882=
XM_011538263.3:c.5646G>A XP_011536565.1:p.Leu1882=
XM_011538264.1:c.5208G>A XP_011536566.1:p.Leu1736=
XM_011538264.3:c.5208G>A XP_011536566.1:p.Leu1736=
XM_017019252.2:c.5040G>A XP_016874741.1:p.Leu1680=
XR_002957320.1:n.6593G>A
XR_002957321.1:n.6495G>A
XR_002957322.1:n.5382G>A
XR_944530.1:n.6582G>A
XR_944530.2:n.6593G>A
XR_944531.1:n.6582G>A
XR_944532.1:n.6582G>A
XR_944532.3:n.6593G>A
XR_944533.1:n.6485G>A