Canonical Allele Identifier: CA399857788
Gene: ACBD4 HGNC NCBI

Linked Data

dbSNP Id: rs1341465790

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.45143556G>A , CM000679.2:g.45143556G>A GRCh38
NC_000017.10:g.43220923G>A , CM000679.1:g.43220923G>A GRCh37
NC_000017.9:g.40576706G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321854.13:c.903G>A MANE Select ENSP00000314440.8:p.Arg301=
ENST00000321854.12:c.903G>A ENSP00000314440.8:p.Arg301=
ENST00000398322.7:c.903G>A ENSP00000381367.2:p.Arg301=
ENST00000431281.5:c.941G>A ENSP00000405969.1:p.Gly314Glu
ENST00000585553.5:n.1621G>A
ENST00000586346.5:c.941G>A ENSP00000465484.1:p.Gly314Glu
ENST00000591859.5:c.941G>A ENSP00000465610.1:p.Gly314Glu
ENST00000592162.5:c.763G>A ENSP00000466305.1:p.Asp255Asn
NM_001135704.1:c.941G>A NP_001129176.1:p.Gly314Glu
NM_001135705.1:c.903G>A NP_001129177.1:p.Arg301=
NM_001135706.1:c.941G>A NP_001129178.1:p.Gly314Glu
NM_024722.2:c.903G>A NP_078998.1:p.Arg301=
XM_005257673.1:c.944G>A XP_005257730.1:p.Gly315Glu
XM_005257674.1:c.944G>A XP_005257731.1:p.Gly315Glu
XM_005257677.1:c.941G>A XP_005257734.1:p.Gly314Glu
XM_006722085.1:c.906G>A XP_006722148.1:p.Arg302=
XM_006722088.1:c.804G>A XP_006722151.1:p.Arg268=
XM_006722089.1:c.766G>A XP_006722152.1:p.Asp256Asn
XM_006722090.1:c.763G>A XP_006722153.1:p.Asp255Asn
XM_011525255.1:c.944G>A XP_011523557.1:p.Gly315Glu
XM_011525256.1:c.944G>A XP_011523558.1:p.Gly315Glu
XM_011525257.1:c.801G>A XP_011523559.1:p.Arg267=
NM_001135705.2:c.903G>A NP_001129177.1:p.Arg301=
NM_001135706.2:c.941G>A NP_001129178.1:p.Gly314Glu
NM_001135707.2:c.*946G>A NP_001129179.1:n.*946G>A
NM_001321352.1:c.941G>A NP_001308281.1:p.Gly314Glu
NM_001321353.1:c.941G>A NP_001308282.1:p.Gly314Glu
NM_024722.3:c.903G>A NP_078998.1:p.Arg301=
XM_006722085.2:c.906G>A XP_006722148.1:p.Arg302=
XM_017025084.1:c.962G>A XP_016880573.1:p.Gly321Glu
XM_017025085.1:c.962G>A XP_016880574.1:p.Gly321Glu
XM_017025086.1:c.962G>A XP_016880575.1:p.Gly321Glu
XM_017025087.1:c.944G>A XP_016880576.1:p.Gly315Glu
XM_017025088.1:c.941G>A XP_016880577.1:p.Gly314Glu
XM_017025089.2:c.*776G>A XP_016880578.1:n.*776G>A
XM_017025090.1:c.924G>A XP_016880579.1:p.Arg308=
XM_017025091.1:c.903G>A XP_016880580.1:p.Arg301=
XM_017025092.2:c.903G>A XP_016880581.1:p.Arg301=
XM_017025094.1:c.*946G>A XP_016880583.1:n.*946G>A
XM_017025095.1:c.822G>A XP_016880584.1:p.Arg274=
XM_017025096.1:c.784G>A XP_016880585.1:p.Asp262Asn
XM_017025097.1:c.801G>A XP_016880586.1:p.Arg267=
XM_017025098.1:c.801G>A XP_016880587.1:p.Arg267=
XM_017025099.1:c.763G>A XP_016880588.1:p.Asp255Asn
XM_024450949.1:c.*776G>A XP_024306717.1:n.*776G>A
NM_001135705.3:c.903G>A MANE Select NP_001129177.1:p.Arg301=
NM_001135706.3:c.941G>A NP_001129178.1:p.Gly314Glu
NM_001135707.3:c.*946G>A NP_001129179.1:n.*946G>A
NM_001321352.2:c.941G>A NP_001308281.1:p.Gly314Glu
NM_001321353.2:c.941G>A NP_001308282.1:p.Gly314Glu
NM_024722.4:c.903G>A NP_078998.1:p.Arg301=
NM_001378111.1:c.*946G>A NP_001365040.1:n.*946G>A
NM_001378112.1:c.*946G>A NP_001365041.1:n.*946G>A