Canonical Allele Identifier: CA497148466

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 1528361
• ClinVar RCV Id: RCV002071214
• dbSNP Id: rs1245847525
• gnomAD v4: 16-89154141-G-A
• MyVariant Identifiers: chr16:g.89220549G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154141G>A , CM000678.2:g.89154141G>A	GRCh38
NC_000016.9:g.89220549G>A , CM000678.1:g.89220549G>A	GRCh37
NC_000016.8:g.87748050G>A	NCBI36
NG_031961.1:g.65333G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1665G>A	ENSP00000320646.4:p.Glu555=
ENST00000614302.5:c.1665G>A MANE Select	ENSP00000479130.1:p.Glu555=
ENST00000649953.1:c.1875G>A	ENSP00000497456.1:p.Glu625=
ENST00000317447.8:c.1665G>A	ENSP00000320646.4:p.Glu555=
ENST00000378345.8:c.870G>A	ENSP00000367596.4:p.Glu290=
ENST00000393145.5:n.6575G>A
ENST00000406948.7:c.1665G>A	ENSP00000384627.3:p.Glu555=
ENST00000537116.5:n.791G>A
ENST00000537155.1:n.405G>A
ENST00000542688.5:c.*409G>A	ENSP00000446281.1:n.*409G>A
ENST00000614302.4:c.1665G>A	ENSP00000479130.1:p.Glu555=
NM_001127214.3:c.1665G>A	NP_001120686.1:p.Glu555=
NM_001243279.2:c.1665G>A	NP_001230208.1:p.Glu555=
NM_001284316.1:c.870G>A	NP_001271245.1:p.Glu290=
NM_174917.4:c.1665G>A	NP_777577.2:p.Glu555=
NR_045667.2:n.791G>A
NR_104293.1:n.2099G>A
XR_933239.1:n.2106G>A
XR_933240.1:n.2103G>A
XR_933241.1:n.1860G>A
NR_147928.1:n.2143G>A
NR_147929.1:n.1897G>A
XM_017023020.2:c.-3440G>A	XP_016878509.1:n.-3440G>A
XM_024450187.1:c.870G>A	XP_024305955.1:p.Glu290=
XR_001751864.2:n.1912G>A
XR_933240.3:n.2102G>A
NM_001127214.4:c.1665G>A	NP_001120686.1:p.Glu555=
NM_001243279.3:c.1665G>A MANE Select	NP_001230208.1:p.Glu555=
NM_001284316.2:c.870G>A	NP_001271245.1:p.Glu290=
NM_174917.5:c.1665G>A	NP_777577.2:p.Glu555=
NR_104293.2:n.2056G>A
NR_147928.2:n.2100G>A
NR_147929.2:n.1854G>A