Canonical Allele Identifier: CA386479250

Gene: ACACB

Linked Data

• ClinVar Variation Id: 996708
• ClinVar RCV Id: RCV001291444
• dbSNP Id: rs2044635183
• MyVariant Identifiers: chr12:g.109623528A>G (hg19) ; chr12:g.109185723A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109185723A>G , CM000674.2:g.109185723A>G	GRCh38
NC_000012.11:g.109623528A>G , CM000674.1:g.109623528A>G	GRCh37
NC_000012.10:g.108107911A>G	NCBI36
NG_046907.1:g.79540A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338432.12:c.1963A>G MANE Select	ENSP00000341044.7:p.Ser655Gly
ENST00000338432.11:c.1963A>G	ENSP00000341044.7:p.Ser655Gly
ENST00000377848.7:c.1963A>G	ENSP00000367079.3:p.Ser655Gly
ENST00000377854.9:c.-2040A>G	ENSP00000367085.6:n.-2040A>G
NM_001093.3:c.1963A>G	NP_001084.3:p.Ser655Gly
XM_005253876.3:c.1963A>G	XP_005253933.1:p.Ser655Gly
XM_006719365.2:c.1963A>G	XP_006719428.1:p.Ser655Gly
XM_006719367.2:c.1357A>G	XP_006719430.1:p.Ser453Gly
XM_011538259.1:c.1963A>G	XP_011536561.1:p.Ser655Gly
XM_011538260.1:c.1963A>G	XP_011536562.1:p.Ser655Gly
XM_011538261.1:c.1963A>G	XP_011536563.1:p.Ser655Gly
XM_011538262.1:c.1963A>G	XP_011536564.1:p.Ser655Gly
XM_011538263.1:c.1963A>G	XP_011536565.1:p.Ser655Gly
XM_011538264.1:c.1336A>G	XP_011536566.1:p.Ser446Gly
XM_011538265.1:c.1963A>G	XP_011536567.1:p.Ser655Gly
XR_944530.1:n.2710A>G
XR_944531.1:n.2710A>G
XR_944532.1:n.2710A>G
XR_944533.1:n.2711A>G
XM_005253876.4:c.1963A>G	XP_005253933.1:p.Ser655Gly
XM_006719367.4:c.1357A>G	XP_006719430.1:p.Ser453Gly
XM_011538259.2:c.1963A>G	XP_011536561.1:p.Ser655Gly
XM_011538263.3:c.1963A>G	XP_011536565.1:p.Ser655Gly
XM_011538264.3:c.1336A>G	XP_011536566.1:p.Ser446Gly
XM_011538265.2:c.1963A>G	XP_011536567.1:p.Ser655Gly
XM_017019252.2:c.1357A>G	XP_016874741.1:p.Ser453Gly
XR_002957320.1:n.2721A>G
XR_002957321.1:n.2721A>G
XR_002957322.1:n.1608A>G
XR_944530.2:n.2721A>G
XR_944532.3:n.2721A>G
NM_001093.4:c.1963A>G MANE Select	NP_001084.3:p.Ser655Gly