Canonical Allele Identifier: CA13756723

Gene: ACACB

Linked Data

• dbSNP Id: rs2075263
• gnomAD v2: 12-109704325-C-T
• gnomAD v3: 12-109266520-C-T
• gnomAD v4: 12-109266520-C-T
• MyVariant Identifiers: chr12:g.109704325C>T (hg19) ; chr12:g.109266520C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109266520C>T , CM000674.2:g.109266520C>T	GRCh38
NC_000012.11:g.109704325C>T , CM000674.1:g.109704325C>T	GRCh37
NC_000012.10:g.108188708C>T	NCBI36
NG_046907.1:g.160337C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000338432.12:c.*158C>T MANE Select	ENSP00000341044.7:n.*158C>T
ENST00000338432.11:c.*158C>T	ENSP00000341044.7:n.*158C>T
ENST00000377848.7:c.*158C>T	ENSP00000367079.3:n.*158C>T
ENST00000537279.1:n.1958C>T
ENST00000538526.5:c.3619C>T
NM_001093.3:c.*158C>T	NP_001084.3:n.*158C>T
XM_005253876.3:c.*158C>T	XP_005253933.1:n.*158C>T
XM_006719365.2:c.*158C>T	XP_006719428.1:n.*158C>T
XM_006719367.2:c.*158C>T	XP_006719430.1:n.*158C>T
XM_011538259.1:c.*158C>T	XP_011536561.1:n.*158C>T
XM_011538260.1:c.*158C>T	XP_011536562.1:n.*158C>T
XM_011538261.1:c.*158C>T	XP_011536563.1:n.*158C>T
XM_011538262.1:c.*158C>T	XP_011536564.1:n.*158C>T
XM_011538263.1:c.*158C>T	XP_011536565.1:n.*158C>T
XM_011538264.1:c.*158C>T	XP_011536566.1:n.*158C>T
XM_005253876.4:c.*158C>T	XP_005253933.1:n.*158C>T
XM_006719367.4:c.*158C>T	XP_006719430.1:n.*158C>T
XM_011538259.2:c.*158C>T	XP_011536561.1:n.*158C>T
XM_011538263.3:c.*158C>T	XP_011536565.1:n.*158C>T
XM_011538264.3:c.*158C>T	XP_011536566.1:n.*158C>T
XM_017019252.2:c.*158C>T	XP_016874741.1:n.*158C>T
XR_002957320.1:n.8378C>T
XR_002957321.1:n.8803C>T
XR_002957322.1:n.7690C>T
XR_944532.3:n.8306C>T
NM_001093.4:c.*158C>T MANE Select	NP_001084.3:n.*158C>T